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

• Main Authors: Chevalier-Porst Françoise (Author), Templin Carine (Author), Guittard Caroline (Author), Altiéri Jean-Pierre (Author), Claustres Mireille (Author), Georges Marie (Author)
• Format: Book
• Published: BMC, 2004-08-01T00:00:00Z.
• Subjects: article
• Online Access: 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...