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Investigation of eight candidate genes on chromosome 1p36 for autosomal dominant total congenital cataract

PURPOSE: To identify the causative gene for autosomal dominant total congenital cataract in a six-generation Australian family displaying linkage to chromosome 1p36. METHODS: Eight candidate genes (HSPB7, FBXO42, EFHD2, ZBTB17, CAPZB, FBLIM1, ALDH4A1, and MFAP2) from within the previously defined li...

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主要な著者: Burdon, Kathryn P., Hattersley, Kathryn, Lachke, Salil A., Laurie, Kate J., Maas, Richard L., Mackey, David A., Craig, Jamie E.
フォーマット: Artigo
言語:Inglês
出版事項: Molecular Vision 2008
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オンライン・アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC2563027/
https://ncbi.nlm.nih.gov/pubmed/18843385
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