Abstract
Huntington's disease results from a CAG repeat expansion within the Huntingtin gene; this is measured routinely in diagnostic laboratories. The European Huntington's Disease Network REGISTRY project centrally measures CAG repeat lengths on fresh samples; these were compared with the original results from 121 laboratories across 15 countries. We report on 1326 duplicate results; a discrepancy in reporting the upper allele occurred in 51% of cases, this reduced to 13.3% and 9.7% when we applied acceptable measurement errors proposed by the American College of Medical Genetics and the Draft European Best Practice Guidelines, respectively. Duplicate results were available for 1250 lower alleles; discrepancies occurred in 40% of cases. Clinically significant discrepancies occurred in 4.0% of cases with a potential unexplained misdiagnosis rate of 0.3%. There was considerable variation in the discrepancy rate among 10 of the countries participating in this study. Out of 1326 samples, 348 were re-analysed by an accredited diagnostic laboratory, based in Germany, with concordance rates of 93% and 94% for the upper and lower alleles, respectively. This became 100% if the acceptable measurement errors were applied. The central laboratory correctly reported allele sizes for six standard reference samples, blind to the known result. Our study differs from external quality assessment (EQA) schemes in that these are duplicate results obtained from a large sample of patients across the whole diagnostic range. We strongly recommend that laboratories state an error rate for their measurement on the report, participate in EQA schemes and use reference materials regularly to adjust their own internal standards.
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References
Huntington's Disease Collaborative Research Group: A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes. Cell 1993; 72: 971–983.
Kremer B, Godberg P, Andrew SE et al: A worldwide study of the Huntington's disease mutation. The sensitivity and specificity of measuring CAG repeats. New Engl J Med 1994; 330: 1401–1406.
ACMG/ASHG Statement: Laboratory guidelines for Huntington's disease genetic testing. Am J Hum Genet 1998; 62: 1243–1247.
Losekoot M, Bakker B, Laccone F, Stenhouse S, Elles R : A European pilot quality assessment scheme for molecular diagnosis of Huntington's disease. Eur J Hum Genet 1999; 7: 217–222.
Orth M, Handley OJ, Schwenke C et al: Observing Huntington's disease: the European Huntington's Disease Network's REGISTRY [Internet]. Version 19. PLoS Curr: Huntington Dis 28 September 2010 (revised 13 April 2011): PMC2947793.
Miller SA, Dykes DD, Polesky HF : A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 1988; 16: 1215.
Warner JP, Barron LH, Brock DJ : A new polymerase chain reaction (PCR) assay for the trinucleotide repeat that is unstable and expanded on Huntington's disease chromosomes. Mol Cell Probes 1993; 7: 235–239.
Riess O, Noerremoelle A, Soerensen SA, Epplen JT : Improved PCR conditions for the stretch of (CAG)n repeats causing Huntington′s disease. Hum Mol Genet 1993; 2: 637.
American College of Medical Genetics Standards and Guidelines for Clinical Genetics Laboratories, 2006 Edition. Available at: http://www.acmg.net/Pages/ACMG_Activities/stds-2002/HD.htm.
Kline M : Certification of Standard Reference Material for the CAG repeats of Huntington Disease, 2010, Available at: http://www.nist.gov/mml/biochemical/genetics/huntington_disease_srm.cfm.
Barton D : Best Practice Guidelines for the molecular analysis of Huntington's disease, 2010, (Personal communication). This draft guideline may be accessed at: http://www.cmgs.org/BPGs/pdfs%20current%20bpgs/HD%20BPG%20April%202010%20for%20consultation.pdf.
Losekoot M, Seneca S, Kamarainen O, Patton S : Ten years’ experience in external quality assessment for genetic testing of Huntington's disease in Europe: still room for improvement. Clin Genet 2009; 76 (Suppl 1): 104–105.
Quarrell OW, Rigby AS, Baron L et al: Reduced penetrance alleles for Huntington's disease: a multicentre study. J Med Genet 2007; 44: e68.
Williams LC, Hegde MR, Herrera G, Stapleton PM, Love DR : Comparative semi-automated analysis of (CAG) repeats in the Huntington disease gene: use of internal standards. Mol Cell Probes 1999; 13: 283–289.
Acknowledgements
The REGISTRY project is funded by the Cure Huntington's Disease Initiative. We thank Simon Patton from EMQN for reviewing the list of laboratories participating in this study and stating the number participating in the 2009 EMQN EQA.
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G Bernhard Landwehrmeyer received research grants from CHDI and honoraria from Siena Biotech for consultations as well as compensation for the conduct of clinical trials from Amarin, Neurosearch, Novartis and Medivation. The remaining authors declare no conflict of interest.
Appendix
Appendix
Collaborators 2004–2009
Language coordinators
Katrin Barth, Leonor Correia Guedes, Ana Maria Finisterra, Monica Bascuñana Garde, R Bos, Daniel Ecker, Christine Held, Kerstin Koppers; Mathilde Laurà, Asunción Martínez Descals, Tim McLean, Tiago Mestre, Sara Minster, Daniela Monza, Jenny Townhill (formerly Naji), Michael Orth, Helene Padieu, Laurent Paterski; Nadia Peppa, Susana Pro Koivisto, Amandine Rialland, Ninni Røren (formerly Heinonen) Pavla Šašinková, Patricia Trigo Cubillo, Marlene R van Walsem, Marie-Noelle Witjes-Ané, Elizaveta Yudina (formerly Tarasova), Daniel Zielonka, Eugeniusz Zielonka; Paola Zinzi.
Registry Steering Committee
A-C Bachoud-Lévi, AR Bentivoglio, I Biunno, R Bonelli, J-M Burgunder, SB Dunnett, JJ Ferreira, OJ Handley, A Heiberg, T Illmann, GB Landwehrmeyer, J Levey, JE Nielsen, M Päivärinta, RAC Roos, A Rojo Sebastián, SJ Tabrizi, W Vandenberghe, C Verellen-Dumoulin, J Zaremba, T Uhrova, J Wahlström.
Austria
Graz (LKH Graz, Abteilung für Psychiatrie): Raphael M. Bonelli; Brigitte Herranhof; Anna Holl (formerly Hödl); Hans-Peter Kapfhammer; Michael Koppitz; Markus Magnet; Daniela Otti; Annamaria Painold; Karin Reisinger; Monika Scheibl; Karen Hecht; Sabine Lilek; Nicole Müller; Helmut Schöggl; Jasmin Ullah.
Innsbruck (Neurologie, Universitätsklinik Innsbruck): Florian Brugger; Caroline Hepperger; Anna Hotter; Philipp Mahlknecht; Michael Nocker; Klaus Seppi; Gregor Wenning; Lisa Buratti; Eva-Maria Hametner; Christiane Holas; Anna Hussl; Katharina Mair; Werner Poewe; Elisabeth Wolf; Anja Zangerl; Eva-Maria Braunwarth.
Belgium
Charleroi (Institut de Pathologie et de Génétique): Pascale Ribaï. Brussels (VUB Neurology): Anja Flamez; V Morez; Sylvie de Raedt.
Leuven: (Universitair Ziekenhuis Gasthuisberg,): Andrea Boogaerts; Wim Vandenberghe; Dimphna van Reijen.
Czech Republic
Prague (Extrapyramidové centrum, Neurologická klinika, 1. LF UK a VFN): Jiř Klempíř; Martin Kucharík; Jan Roth.
DENMARK
Copenhagen (Hukommelsesklinikken, Rigshospitalet; Panum Instituttet): Jørgen E. Nielsen, Lena E. Hjermind, Oda Jakobsen, Jette Stokholm; Lis Hasholt, Anne Nørremølle, Sven Asger Sørensen.
Finland
Turku-Suvituuli (Rehabilitation Centre Suvituuli): Heli Hiivola; Kirsti Martikainen; Katri Tuuha.
Helsinki-The Family Federation of Finland (Department of Medical Genetics): Maarit Peippo; Marjatta Sipponen.
Germany
Aachen (Universitätsklinikum Aachen, Neurologische Klinik): Christoph Michael Kosinski; Eva Milkereit; Daniela Probst; Christian Sass; Johannes Schiefer; Christiane Schlangen; Cornelius J Werner.
Berlin (Klinik und Poliklinik für Neurologie – Charité – Universitätsmedizin Berlin): Harald Gelderblom; Josef Priller; Harald Prüß; Eike Jakob Spruth.
Bochum (Huntington-Zentrum (NRW) Bochum im St Josef-Hospital): Jürgen Andrich; Rainer Hoffmann; Peter H Kraus; Sabine Muth; Christian Prehn, Carsten Saft; Stephan Salmen; Christiane Stamm; Tanja Steiner; Katrin Straßburger.
Dinslaken (Reha Zentrum in Dinslaken im Gesundheitszentrums Lang): Herwig Lange.
Dresden (Universitätsklinikum Carl Gustav Carus an der Technischen Universität Dresden, Klinik und Poliklinik für Neurologie): Andrea Friedrich; Ulrike Hunger; Matthias Löhle; Simone Schmidt; Alexander Storch; Annett Wolz; Martin Wolz.
Freiburg (Neurologie, Universitätsklinik Freiburg): Johann Lambeck, Birgit Zucker.
Hamburg (Universitätsklinikum Hamburg-Eppendorf, Klinik und Poliklinik für Neurologie): Kai Boelmans; Christos Ganos; Ute Hidding; Jan Lewerenz; Alexander Münchau; Michael Orth; Jenny Schmalfeld; Lars Stubbe; Simone Zittel.
Heiligenhafen (Psychatrium Heiligenhafen): Walburgis Heinicke.
Marburg KPP (Klinik für Psychiatrie und Psychotherapie Marburg-Süd): Bernhard Longinus.
Marburg Uni (Neurologie, Universität Marburg): Kathrin Bürk; Jens Carsten Möller; Ida Rissling.
München (Huntington-Ambulanz im Neuro-Kopfzentrum – Klinikum rechts der Isar der Neurologischen Klinik und Poliklinik der Technischen Universität München): Alexander Peinemann; Michael Städtler; Adolf Weindl.
Münster (Universitätsklinikum Münster, Klinik und Poliklinik für Neurologie): Natalie Bechtel; Heike Beckmann; Stefan Bohlen; Eva Hölzner; Herwig Lange; Ralf Reilmann; Stefanie Rohm, Silke Rumpf ; Sigrun Schepers.
Taufkirchen (Isar-Amper-Klinikum – Klinik Taufkirchen (Vils)): Antonie Beister; Matthias Dose; Kathrin Hammer; Janina Kieni; Gabriele Leythaeuser; Ralf Marquard; Tina Raab; Sven Richter; Amina Selimbegovic-Turkovic; Caroline Schrenk; Michele Schuierer; Alexandra Wiedemann.
Ulm (Neurologie, Universitätsklinikum Ulm): Katrin Barth; Andrea Buck; Julia Connemann; Daniel Ecker; Carolin Eschenbach; Christine Held; Bernhard Landwehrmeyer; Franziska Lezius; Solveig Nepper; Anke Niess; Michael Orth, Sigurd Süßmuth, Sonja Trautmann; Patrick Weydt.
Italy
Bari (Dipartimento di Scienze Neurologiche e Psichiatriche Universita′ di Bari): Claudia Cormio; Olimpia Difruscolo; Vittorio Sciruicchio; Claudia Serpino; Marina de Tommaso.
Bologna (Dipartimento di Scienze Neurologiche – Clinica Neurologica, Università di Bologna): Sabrina Capellari; Pietro Cortelli; Roberto Gallassi; Roberto Poda; Giovanni Rizzo; Cesa Scaglione.
Florence (Dipartimento di Scienze Neurologiche e Psichiatriche Universita’ degli Studi di Firenze-Azienda Ospedaliera Universitaria Careggi): Elisabetta Bertini; Elena Ghelli, Andrea Ginestroni, Francesca Massaro, Claudia Mechi; Marco Paganini; Silvia Piacentini; Silvia Pradella; Anna Maria Romoli; Sandro Sorbi.
Genoa (Dipartimento di Neuroscienze, Oftalmologia e Genetica. Università di Genova): Giovanni Abbruzzese; Monica Bandettini di Poggio; Emilio Di Maria, Giovanna Ferrandes; Paola Mandich; Roberta Marchese.
Milan (Fondazione IRCCS Istituto Neurologico Carlo Besta): Alberto Albanese; Daniela Di Bella; Stefano Di Donato; Cinzia Gellera; Silvia Genitrini; Caterina Mariotti; Daniela Monza; Lorenzo Nanetti; Dominga Paridi; Paola Soliveri; Chiara Tomasello.
Naples (Dipartimento di Scienze Neurologiche Azienda Ospedaliera Universitaria Federico II): Giuseppe De Michele; Luigi Di Maio; Carlo Rinaldi; Cinzia Valeria Russo, Elena Salvatore; Tecla Tucci.
Pozzilli (IS) (Unità Operativa di Neurogenetica – IRCCS Neuromed): Milena Cannella; Valentina Codella, Francesca De Gregorio, Nunzia De Nicola, Tiziana Martino; Maria Simonelli; Ferdinando Squitieri.
Rome (Istituto di Neurobiologia e Medicina Molecolare & Istituto di Scienze e Tecnologie della Cognizione/CNR; Istituto di Neurologia Università Cattolica del Sacro Cuore): Anna Rita Bentivoglio; Claudio Catalli; Raffaella Di Giacopo; Alfonso Fasano; Marina Frontali; Arianna Guidubaldi; Tamara Ialongo; Gioia Jacopini; Giovanna Loria; Anna Modoni; Carla Piano; Piccininni Chiara; Davide Quaranta; Silvia Romano; Francesco Soleti; Maria Spadaro; Paola Zinzi.
The Netherlands
Enschede (Medisch Spectrum Twente): Monique SE van Hout; Jeroen PP van Vugt; A Marit de Weert.
Groningen (Polikliniek Neurologie): JJW Bolwijn; M Dekker; KL Leenders; JCH van Oostrom.
Leiden (Leiden University Medical Centre): Reineke Bos; Eve M. Dumas; Caroline K Jurgens; Simon JA van den Bogaard; Raymund AC Roos; Ellen P ‘t Hart; Marie-Noëlle Witjes-Ané.
Nijmegen (Department of Neurology, Universitair Medisch Centrum St Radboud): Berry Kremer; CCP Verstappen.
Norway
Oslo University Hospital (Rikshospitalet, Department of Medical Genetics and Department of Neurology): Arvid Heiberg; Marleen R van Walsem; Olaf Aaserud; Raghild Wehus.
Kathrine Bjørgo; Madelein Fannemel; Per Gørvell; Susana Pro Koivisto; Lars Retterstøl; Torborg Overland; Bodil Stokke.
Trondheim (St Olavs Hospital): Inga Bjørnevoll; Sigrid Botne Sando.
Poland
Gdansk (Specialist Hospital, Gdansk Zaspa): Emilia Sitek; Jaroslaw Slawek; Witold Soltan.
Katowice (Silesian Medical University, Katowice): Magdalena Boczarska-Jedynak; Barbara Jasinska-Myga; Gregorz Opala; Gabriela Kłodowska – Duda.
Krakow (Krakowska Akademia Neurologii): Krzysztof Banaszkiewicz; Andrzej Szczudlik; Monika Rudziñska; Magdalena Wójcik; Małgorzata Dec; Malgorzata Krawczyk.
Poznan (Medical University of Poznañ): Anna Bryl; Anna Ciesielska; Aneta Klimberg; Jerzy Marcinkowski; Justyna Sempołowicz; Daniel Zielonka; Husam Samara.
Warsaw-MU (Department of Neurology, Medical University of Warsaw): Piotr Janik; Anna Kalbarczyk; Hubert Kwiecinski; Zygmunt Jamrozik.
Warsaw-IPiN (Department of Genetics, Department of Neurology, Institute of Psychiatry and Neurology): Jakub Antczak; Katarzyna Jachinska; Maria Rakowicz; Przemyslaw Richter; Danuta Ryglewicz; Grzegorz Witkowski; Elzbieta Zdzienicka; Jacek Zaremba; Anna Sułek, Wioletta Krysa.
Portugal
Lisbon – (Hospital de Santa Maria; Neurological Clinical Research Unit, Instituto de Medicina Molecular): Tiago Mestre; Leonor Guedes; Miguel Coelho; Tiago Mendes; Anabela Valadas; Joaquim J Ferreira.
Porto – (Hospital Geral de Santo António): Sara Cavaco; Joana Damásio; Marina Magalhães.
Porto – (Hospital de São João): Miguel Gago; Carolina Garrett; Maria Rosália Guerra.
Spain
Granada (Neurología, Hospital Universitario San Cecilio de Granada): Francisco Barrero; Blas Morales.
Burgos (Servicio de Neurología Hospital General Yagüe): Esther Cubo; Natividad Mariscal; Jesús Sánchez.
Fuenlabrada (Hospital Universitario de Fuenlabrada): Fernando Alonso-Frech; Maria Rabasa Perez.
Madrid-Clinico (Hospital Clínico Universitario San Carlos): María Fenollar; Rocío García-Ramos García; Purificacion Pin Quiroga; Susana Vázquez Rivera; Clara Villanueva.
Madrid RYC (Hospital Ramón y Cajal, Neurología): Mónica Bascuñana; Marta Fatás Ventura; Guillermo García Ribas; Justo García de Yébenes; José Luis López – Sendón Moreno, Patricia Trigo Cubillo.
Madrid FJD (Madrid-Fundación Jiménez Díaz): Pedro J García Ruíz, Asunción Martínez-Descals, María José Saiz Artiga; Vicenta Sánchez.
Murcia (Hospital Universitario Virgen de la Arrixaca): María Fuensanta Noguera Perea; Fortuna Lorenza; María Martirio Antequera Torres; Gema Reinante ; Laura Vivancos Moreau.
Barcelona-Hospital Mútua de Terrassa : Miquel Aguilar Barbera; Dolors Badenes Guia; Laura Casas Hernanz ; Judit López Catena; Ana Rojo Sebastián, Pilar Quiléz Ferrer; Gemma Tome Carruesco.
Barcelona-Bellvitge (Hospital Universitari de Bellvitge): Jordi Bas; Núria Busquets Matilde Calopa.
Barcelona-Merced (Hospital Mare de Deu de La Merced): Marina Dalmau Elorza; Cristóbal Díez-Aja López; Santiago Durán-Sindreu Terol; Misericordia Floriach Robert; Belén Garzón Ruíz; Ana González Casado; Isabel Haro Martínez; Celia Mareca Viladrich; Regina Pons i Càrdenas; Elvira Roca; Joan Roig Llesoy; Jesús Miguel Ruiz Idiago; Mar Ruíz Vergara; Socorro Soriano García; Antonio Villa Riballo.
Palma (Hospital Son Dureta): Aranzazú Gorospe; Inés Legarda; Penelope Navas Arques; María José Torres Rodríguez, Barbara Vives.
Pamplona (Department of Medical Genetics, Hospital Virgen del Camino): Itziar Gaston.
Valencia (Hospital Universitari La Fe de Valencia): Maria Bosca; Juan Andres Burguera; Anabel Campos Garcia
Sweden
Stockholm (Karolinska University Hospital): Sven E Pålhagen; Martin Paucar; Per Svenningsson; Tina Walldén Reza-Soltani; Arja Höglund; Britta Sandström.
Göteborg (Sahlgrenska University Hospital): Jan Wahlström; Ulrika Høsterey-Ugander; Gunnel Fredlund; Radu Constantinescu; Liselotte Neleborn-Lingefjärd.
Stockholm-Ersta (NeuroHealth Consulting Sweden HB, Karolinska Institute): Joakim Tedroff ; Mona Esmaeilzadeh; Elisabeth Winnberg.
Switzerland
Bern: Jean-Marc Burgunder; Yvonne Burgunder; Yanik Stebler (Neurologische Klinik des Inselspitals); Alain Kaelin; Irene Romero; Michael Schüpbach; Sabine Weber Zaugg (Zentrum für Bewegungsstörungen, Neurologische Klinik und Poliklinik).
United Kingdom
Aberdeen (NHS Grampian, Clinical Genetics Centre): Roisin Jack; Kirsty Matheson; Zosia Miedzybrodzka; Daniela Rae; Sheila Simpson; Fiona Summers; Alexandra Ure.
Birmingham (The Barberry Centre, Department of Psychiatry): Jenny Crooks; Adrienne Curtis; Jenny de Souza (Keylock); Hugh Rickards; Jan Wright.
Cambridge (Cambridge Centre for Brain Repair, Forvie Site): Roger A. Barker; Anna Di Pietro; Kate Fisher; Anna Goodman; Susan Hill; Ann Kershaw; Sarah Mason; Nicole Paterson; Lucy Raymond.
Cardiff (The Institute of Medical Genetics, University Hospital of Wales): Jonathan Bisson, Monica Busse; Catherine Clenaghan; Lynda Ellison-Rose; Olivia Handley, Sarah Hunt, Jenny Townhill (formerly Naji); Kathleen Price; Anne Rosser.
Edinburgh (Molecular Medicine Centre, Western General Hospital, Department of Clinical Genetics): Maureen Edwards; Teresa Hughes (Scottish Huntington's Association); Marie McGill; Pauline Pearson; Mary Porteous; Paul Smith (Scottish Huntington's Association); Adam Zeman.
Exeter (Heavitree Hospital): Aaron Causley; Timothy Harrower, Debbie Howcroft; Nicol Lambord; Julia Rankin.
Fife (Scottish Huntington's Association Whyteman's Brae Hospital): Peter Brockie; Jillian Foster; Nicola Johns; Sue McKenzie, Jean Rothery, Gareth Thomas, Shona Yates.
Glasgow (Abercromby Centre): Joanne Miller; Stuart Ritchie.
Gloucester (Department of Neurology, Gloucestershire Royal Hospital): Liz Burrows; Amy Fletcher; Alison Harding, Fiona Laver; Mark Silva; Aileen Thomson.
Leeds (Department of Clinical Genetics, Chapel Allerton Hospital): Kathy Barnes; Carol Chu; Emma Hobson; Stuart Jamieson; Ivana Markova; Jenny Thomson; Jean Toscano; Sue Wild; Pam Yardumian.
Leicester (Leicestershire Partnership Trust, Mill Lodge): Colin Bourne; Carole Clayton; Heather Dipple; Jackie Clapton, Janet Grant; Diana Gross; Caroline Hallam; Julia Middleton; Ann Murch, Dawn Patino.
London (Guy's Hospital): Thomasin Andrews; Andrew Dougherty; Fred Kavalier; Charlotte Golding; Alison Lashwood; Dene Robertson; Deborah Ruddy; Anna Whaite.
London (St Georges-Hospital): Michael Patton, Maria Peterson; Sarah Rose.
London (The National Hospital for Neurology and Neurosurgery): Thomasin Andrews; Stefania Bruno; Elvina Chu; Karen Doherty; Charlotte Golding; Susie Henley; Nayana Lahiri; Marianne Novak; Aakta Patel; Joy Read; Elisabeth Rosser; Miranda Say; Sarah Tabrizi; Rachel Taylor; Thomas Warner; Edward Wild.
Manchester (Genetic Medicine, University of Manchester, Manchester Academic Health Sciences Centre and Central Manchester University Hospitals NHS Foundation Trust): Natalie Arran; Jenny Callaghan; David Craufurd; Ruth Fullam; Liz Howard; Susan Huson; Emma Oughton; Lucy Partington-Jones;); Julie Snowden; Andrea Sollom; Cheryl Stopford; Jennifer Thompson; Iris Trender-Gerhad; Nichola Verstraelen (formerly Ritchie); Leann Westmoreland.
Oxford (Oxford Radcliffe Hospitals NHS Trust): Andrea H Nemeth; Gill Suida.
Plymouth (Heathleigh Unit, Mount Gould Hospital): David Harrison; Max Hughes; Andrew Parkinson; Beverley Soltysiak.
Sheffield (The Royal Hallamshire Hospital – Sheffield Children's Hospital): Oliver Bandmann; Alyson Bradbury, Paul Gill, Helen Fairtlough, Kay Fillingham, Isabella Foustanos; Nadia Peppa, Katherine Tidswell.
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Quarrell, O., Handley, O., O'Donovan, K. et al. Discrepancies in reporting the CAG repeat lengths for Huntington's disease. Eur J Hum Genet 20, 20–26 (2012). https://doi.org/10.1038/ejhg.2011.136
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DOI: https://doi.org/10.1038/ejhg.2011.136
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