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

• Hlavní autoři: Chevalier-Porst Françoise (Autor), Templin Carine (Autor), Guittard Caroline (Autor), Altiéri Jean-Pierre (Autor), Claustres Mireille (Autor), Georges Marie (Autor)
• Médium: Kniha
• Vydáno: BMC, 2004-08-01T00:00:00Z.
• Témata: article
• On-line přístup: 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...