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Mutations and sequence variations detected in the cystic fibrosis transmembrane conductance regulator (CFTR) gene: A report from the cystic fibrosis genetic analysis consortium

✍ Scribed by Lap-Chee Tsui

Publisher: John Wiley and Sons
Year: 1992
Tongue: English
Weight: 616 KB
Volume: 1
Category: Article
ISSN: 1059-7794
DOI: 10.1002/humu.1380010304

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✦ Synopsis

Cystic fibrosis is the most common autosomal disorder in the Caucasian population. Since the description of the major mutation of this disease in 1989, over 150 of additional mutations have been identified in the CFTR gene. This update summarizes the different mutations identified and reported before March 15 by members of the international Cystic Fibrosis Genetic Analysis Consortium. The report includes information on DNA sequence variations found in the gene.

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