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PMID: 8863168 Published · ppublish English Case Reports Journal Article Research Support, Non-U.S. Gov't Research Support, U.S. Gov't, P.H.S.

Heterogeneity of phenotype in two cystic fibrosis patients homozygous for the CFTR exon 11 mutation G551D.

Journal of medical genetics ·Vol. 33 ·No. 8 ·1996-08-00 ·Pages 711-3

Parad RB

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.

MeSH Terms
Adult Child Cystic Fibrosis/genetics,physiopathology Cystic Fibrosis Transmembrane Conductance Regulator/genetics Exons/genetics Female Homozygote Humans Lung/physiopathology Male Mutation/physiology Pancreas/physiopathology Phenotype
Chemicals
CFTR protein, human Cystic Fibrosis Transmembrane Conductance Regulator
Authors & Affiliations
1 authors, click to expand affiliations / ORCID
Parad R B
Division of Respiratory Diseases, Ina Sue Perlmutter Cystic Fibrosis Research Laboratory, Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.
References (11)
11 references, click to expand
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Article Info
Journal
Journal of medical genetics
Abbr.
J Med Genet
ISSN
0022-2593
DOI
10.1136/jmg.33.8.711
Published
1996-08-00
Pages
711-3
Language
English
Region
England
NLM ID
2985087R
PMCID
PMC1050710
Subset
IM
Grants
NIDDK NIH HHS · DK2273 · United States
External Links
PubMed source DOI: 10.1136/jmg.33.8.711 PMC Full Text View journal details
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