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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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| Publicado no: | Eur J Hum Genet |
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| Main Authors: | , , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Nature Publishing Group
2017
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| Assuntos: | |
| Acesso em linha: | 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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