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Showing 1–6 of 6 results

Advanced filters: Author: Sat Dev Batish Clear advanced filters

Positional cloning of the Fanconi anaemia group A gene

Sinoula Apostolou
Scott A. Whitmore
Robert K. Moyzis
Research01 Nov 1996
Nature Genetics

Volume: 14, P: 324-328
The BRCA1-interacting helicase BRIP1 is deficient in Fanconi anemia

Orna Levran
Claire Attwooll
Arleen D Auerbach
Research21 Aug 2005
Nature Genetics

Volume: 37, P: 931-933
The DNA replication FoSTeS/MMBIR mechanism can generate genomic, genic and exonic complex rearrangements in humans

James Lupski and colleagues provide evidence that a replication-based mechanism termed FoSTeS/MMBIR can mediate rearrangements in humans ranging in size from a few hundred base pairs to several megabases. They propose that FoSTeS/MMBIR could be an important mechanism for generating structural variation.

Feng Zhang
Mehrdad Khajavi
James R Lupski
Research21 Jun 2009
Nature Genetics

Volume: 41, P: 849-853
Biallelic mutations in PALB2 cause Fanconi anemia subtype FA-N and predispose to childhood cancer

Sarah Reid
Detlev Schindler
Nazneen Rahman
Research31 Dec 2006
Nature Genetics

Volume: 39, P: 162-164
Alu-specific microhomology-mediated deletion of the final exon of SPAST in three unrelated subjects with hereditary spastic paraplegia

Philip M Boone
Pengfei Liu
James R Lupski
Research30 Mar 2011
Genetics in Medicine

Volume: 13, P: 582-592
Technical standards and guidelines for spinal muscular atrophy testing

Thomas W Prior
Narasimhan Nagan
Corey Braastad
Research13 Jun 2011
Genetics in Medicine

Volume: 13, P: 686-694

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