A cystic fibrosis patient homozygous for the new frameshift mutation 936delTA: description and clinical data.
case_report · Level V
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- Record sourced from PubMed, PMID 8064813.
- Also identified by PMC identifier 1049867.
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Abstract
We report the identification of a new frameshift mutation (936delTA) in exon 6b of the CFTR gene. In the screening of 486 unrelated Spanish CF patients we found a patient homozygous for 936delTA (with consanguineous parents) and a patient heterozygous for delta F508 and 936delTA. Genotype-phenotype correlation studies showed that 936delTA is associated with pancreatic insufficiency and chronic pulmonary colonisation.
Medical subject headings
- Cystic Fibrosis
- Frameshift Mutation