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Identification of common cystic fibrosis mutations in African-Americans with cystic fibrosis increases the detection rate to 75%.

Cystic fibrosis (CF)--an autosomal recessive disorder caused by mutations in CF transmembrane conductance regulator (CFTR) and characterized by abnormal chloride conduction across epithelial membranes, leading to chronic lung and exocrine pancreatic disease--is less common in African-Americans than...

詳細記述

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書誌詳細
主要な著者: Macek, M, Mackova, A, Hamosh, A, Hilman, B C, Selden, R F, Lucotte, G, Friedman, K J, Knowles, M R, Rosenstein, B J, Cutting, G R
フォーマット: Artigo
言語:Inglês
出版事項: 1997
主題:
オンライン・アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC1712417/
https://ncbi.nlm.nih.gov/pubmed/9150159
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