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Complex Inheritance of ABCA4 Disease: Four Mutations in a Family with Multiple Macular Phenotypes
Over 800 mutations in the ABCA4 gene cause autosomal recessive Stargardt disease. Due to extensive genetic heterogeneity, observed variant-associated phenotypes can manifest tremendous variability of expression. Furthermore, the high carrier frequency of pathogenic ABCA4 alleles in the general popul...
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| 出版年: | Hum Genet |
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| 主要な著者: | , , , , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
2015
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4699863/ https://ncbi.nlm.nih.gov/pubmed/26527198 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00439-015-1605-y |
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