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Genetic analysis of Tunisian families with Usher syndrome type 1: toward improving early molecular diagnosis
PURPOSE: Usher syndrome accounts for about 50% of all hereditary deaf-blindness cases. The most severe form of this syndrome, Usher syndrome type I (USH1), is characterized by profound congenital sensorineural deafness, vestibular dysfunction, and retinitis pigmentosa. Six USH1 genes have been ident...
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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
2016
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| 主題: | |
| オンライン・アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4950652/ https://ncbi.nlm.nih.gov/pubmed/27440999 |
| タグ: |
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