Are p.I148T, p.R74W and p.D1270N cystic fibrosis causing mutations ?

• Váldodahkkit: Chevalier-Porst Françoise (Dahkki), Templin Carine (Dahkki), Guittard Caroline (Dahkki), Altiéri Jean-Pierre (Dahkki), Claustres Mireille (Dahkki), Georges Marie (Dahkki)
• Materiálatiipa: Girji
• Almmustuhtton: BMC, 2004-08-01T00:00:00Z.
• Fáttát: article
• Liŋkkat: Connect to this object online.

<p>Abstract</p> <p>Background</p> <p>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 or as neutral variations.</p> <p>Methods</p> <p>The CFTR gene...