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Wolfram gene (WFS1) mutation causes autosomal dominant congenital nuclear cataract in humans
Congenital cataracts are an important cause of bilateral visual impairment in infants. Through genome-wide linkage analysis in a four-generation family of Irish descent, the disease-associated gene causing autosomal-dominant congenital nuclear cataract was mapped to chromosome 4p16.1. The maximum lo...
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| 主要な著者: | , , , , , , , |
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| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
Nature Publishing Group
2013
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3831071/ https://ncbi.nlm.nih.gov/pubmed/23531866 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2013.52 |
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