621-37-4

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Application of multiplex ARMS and SSCP/HD analysis in molecular diagnosis of cystic fibrosis in Indian patients.

Tester F Ashavaid et al.

Molecular diagnosis : a journal devoted to the understanding of human disease through the clinical application of molecular biology, 9(2), 59-66 (2005-09-03)

Cystic fibrosis (CF) is an autosomal recessive disorder caused by mutations in the CFTR gene. The most severe, DeltaF508, mutation accounts for nearly 70% of CF cases worldwide. Besides DeltaF508, there are other point mutations, namely G542X, G551D, R553X, N1303K

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