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

• Autores principales: Guittard Caroline (Autor), Girardet Anne (Autor), Taulan Magali (Autor), Altieri Jean-Pierre (Autor), Templin Carine (Autor), Beroud Christophe (Autor), des Georges Marie (Autor), Claustres Mireille (Autor)
• Formato: Libro
• Publicado: BMC, 2007-04-01T00:00:00Z.
• Materias: article
• Acceso en línea: 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...