Heterogeneity of phenotype in two cystic fibrosis patients homozygous for the CFTR exon 11 mutation G551D.
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.
Parad
R B
RB
Division of Respiratory Diseases, Ina Sue Perlmutter Cystic Fibrosis Research Laboratory, Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.
D000328:Adult; D002648:Child; D003550:Cystic Fibrosis / Q000235:genetics* / Q000503:physiopathology; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D005091:Exons / Q000235:genetics; D005260:Female; D006720:Homozygote; D006801:Humans; D008168:Lung / Q000503:physiopathology; D008297:Male; D009154:Mutation / Q000502:physiology*; D010179:Pancreas / Q000503:physiopathology; D010641:Phenotype
C505032:CFTR protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator