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Novel compound heterozygous mutations in ABCA4 in a Chinese pedigree with Stargardt disease
PURPOSE: Stargardt disease (STGD) is a common macular dystrophy in juveniles that is commonly inherited as an autosomal recessive trait. Mutations in five genes (ABCA4, PROM1, ELOVL4, BEST1, and PRPH2) have been reported to be associated with STGD. In the present study, we aimed to identify the path...
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| Publicado en: | Mol Vis |
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| Main Authors: | , , , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado: |
Molecular Vision
2016
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| Assuntos: | |
| Acceso en liña: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5204459/ https://ncbi.nlm.nih.gov/pubmed/28050124 |
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