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PAX3 mutations and clinical characteristics in Chinese patients with Waardenburg syndrome type 1
PURPOSE: To detect paired box gene 3 (PAX3) mutations and associated phenotypes in Chinese patients with Waardenburg syndrome type 1 (WS1). METHODS: Five unrelated families with suspected WS1 were selected from our Genomic DNA Repository for Hereditary Eye Diseases. The coding and adjacent intronic...
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主要な著者: | , , , , , |
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フォーマット: | Artigo |
言語: | Inglês |
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Molecular Vision
2010
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主題: | |
オンライン・アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2901192/ https://ncbi.nlm.nih.gov/pubmed/20664692 |
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