Heterogeneity of phenotype in two cystic fibrosis patients homozygous for the CFTR exon 11 mutation G551D.
case_report · Level V
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- Record sourced from PubMed, PMID 8863168.
- Also identified by PMC identifier 1050710.
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Abstract
In the heterozygous state, the cystic fibrosis transmembrane conductance regulator (CFTR) exon 11 mutation G551D has been described as "severe," causing pancreatic insufficiency. Two cystic fibrosis (CF) patients homozygous for this mutation showed a mild rather than severe pancreatic phenotype and a variable pulmonary phenotype.
Medical subject headings
- Cystic Fibrosis
- Cystic Fibrosis Transmembrane Conductance Regulator
- Homozygote
- Mutation