Genotypic spectrum and phenotype correlations of ABCA4-associated disease in patients of south Asian descent

Variants in the ABCA4 gene are the most common cause of juvenile-onset blindness affecting close to 1 in 10 000 people worldwide. Disease severity varies largely according to genotype, which can be specific to ethnic and racial groups. Here we investigate the spectrum of ABCA4 variation and its phen...

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Publicat a:Eur J Hum Genet
Autors principals: Lee, Winston, Schuerch, Kaspar, Zernant, Jana, Collison, Frederick T, Bearelly, Srilaxmi, Fishman, Gerald A, Tsang, Stephen H, Sparrow, Janet R, Allikmets, Rando
Format: Artigo
Idioma:Inglês
Publicat: Nature Publishing Group 2017
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Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC5477356/
https://ncbi.nlm.nih.gov/pubmed/28327576
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2017.13
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