Article
Genotypic spectrum and phenotype correlations of ABCA4-associated disease in patients of south Asian descent.
European journal of human genetics : EJHG - 1 Jun 2017
Lee Winston, Schuerch Kaspar, Zernant Jana, Collison Frederick T, Bearelly Srilaxmi, Fishman Gerald A, Tsang Stephen H, Sparrow Janet R, Allikmets Rando
Abstract excerpt
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 phenotypic expression in 38 patients of South Asian descent, notably from India, Pakistan, Bangladesh and Sri Lanka....
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