Article
Molecular analysis of hemophilia B in Brazilian patients.
Brazilian journal of medical and biological research = Revista brasileira de pesquisas medicas e biologicas - 1 Sept 1993
Figueiredo M S
Abstract excerpt
1. The molecular basis of hemophilia B was investigated in 19 Brazilian patients from 14 unrelated families. 2. Southern blotting of TaqI-digested DNA samples was employed for the screening of gene lesions followed by polymerase chain reaction and DNA sequencing for the characterization of mutations. 3. Three different gene mutations were characterized: a nonsense mutation at nucleotide 30875 (codon 252,...
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