Are p.I148T, p.R74W and p.D1270N cystic fibrosis causing mutations ?
作者： Mireille Claustres , Jean-Pierre Altiéri , Caroline Guittard , Carine Templin , Françoise Chevalier-Porst
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摘要: Background To contribute further to the classification of three CFTR amino acid changes (p.I148T, p.R74W and p.D1270N) either as CF or CBAVD-causing mutations neutral variations.
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