Large genomic rearrangements in the <it>CFTR </it>gene contribute to CBAVD

• Main Authors: Guittard Caroline (Author), Girardet Anne (Author), Taulan Magali (Author), Altieri Jean-Pierre (Author), Templin Carine (Author), Beroud Christophe (Author), des Georges Marie (Author), Claustres Mireille (Author)
• Format: Book
• Published: BMC, 2007-04-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

<p>Abstract</p> <p>Background</p> <p>By performing extensive scanning of whole coding and flanking sequences of the <it>CFTR (Cystic Fibrosis Transmembrane Conductance Regulator</it>) gene, we had previously identified point mutations in 167 out of 182 (91.7...