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Cone dystrophy or macular dystrophy associated with novel autosomal dominant GUCA1A mutations
PURPOSE: Sixteen different mutations in the guanylate cyclase activator 1A gene (GUCA1A), have been previously identified to cause autosomal dominant cone dystrophy (adCOD), cone–rod dystrophy (adCORD), macular dystrophy (adMD), and in an isolated patient, retinitis pigmentosa (RP). The purpose of t...
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| 出版年: | Mol Vis |
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| 主要な著者: | , , , , , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
Molecular Vision
2017
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| 主題: | |
| オンライン・アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5389339/ https://ncbi.nlm.nih.gov/pubmed/28442884 |
| タグ: |
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