Article
Characterisation of mutations and genotype-phenotype correlation in cystic fibrosis: experience from India.
Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society - 1 Mar 2008
Shastri Shivaram S, Kabra Madhulika, Kabra Sushil Kumar, Pandey Ravindra M, Menon P S N
Abstract excerpt
BACKGROUND: Very little is known about the genetics of cystic fibrosis (CF) from the Indian subcontinent. The aims of the study were to identify the mutations and study the relation of genotype with phenotype in Indian children with CF. METHODS: A total of 100 patients with CF were screened for mutations in the CFTR gene. These included c.1521_1523delCTT (p.F508del) and c.3849+10 kb C>T mutations followed by...
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