Article
Mutation analysis of the CFTR gene in 225 children: identification of five novel severe and seven reported severe mutations.
Genetic testing and molecular biomarkers - 1 Jul 2012
Sachdeva Kabir, Saxena Renu, Puri Ratna, Bijarnia Sunita, Kohli Sudha, Verma Ishwar Chander
Abstract excerpt
BACKGROUND: Cystic fibrosis (CF) is the most common inherited disorder in Caucasian populations, with more than 1400 cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations. The type of mutations and their distributions varies widely between different countries and/or ethnic groups. METHODS: We characterized the mutations in the CFTR gene by single-strand conformation polymorphism followed by...
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