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Showing 1–2 of 2 results
Advanced filters: Author: Emre Belli Clear advanced filters

  • 1. Name of the disease (synonyms)

    Arterial tortuosity syndrome (arterial tortuosity).

    2. OMIM# of the disease

    208050.

    3. Name of the analysed genes or DNA/chromosome segments

    SLC2A10, also named GLUT10, located in 20q13.12 chromosomal segment.

    4. OMIM# of the gene(s)

    606145.

    Review of the analytical and clinical validity as well as of the clinical utility of DNA-based testing for mutations in the SLC2A10 gene in diagnostic and prenatal settings.

    • Juliette Albuisson
    • Pamela Moceri
    • Xavier Jeunemaitre
    Research
    European Journal of Human Genetics
    Volume: 23, P: 1432