Article
The 3120 +1G-->A splicing mutation in CFTR is common in Brazilian cystic fibrosis patients.
Human biology - 1 Jun 2001
Cabello G M, Cabello EH J L, Fernande O, Harris A
Abstract excerpt
Cystic fibrosis patients from Rio de Janeiro, Brazil, were screened for mutations in exons 11 and 16 of the cystic fibrosis transmembrane conductance regulator gene (CFTR) by a nonradioactive single-stranded conformational polymorphism (SSCP) analysis technique. This procedure was used to evaluate the undefined mutations in one or both alleles of 64 cystic fibrosis patients. Unusual SSCP profiles were...
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