Phenotypic variability in five cystic fibrosis patients compound heterozygous for the Y1092X mutation

Human Heredity

Volumn 48, Issue 3, 1998, Pages 158-162

  De Braekeleer, Marc ^a   Allard, Christian ^b   Leblanc, Jean Pierre ^b   Simard, Fernand ^b   Aubin, Gervais ^b  

^a UNIVERSITÉ DU QUÉBEC À CHICOUTIMI   (Canada)

^b NONE

Author keywords

Cystic fibrosis; French Canadian; Genotype phenotype correlation; Mutation

Indexed keywords

TRANSMEMBRANE CONDUCTANCE REGULATOR;

ARTICLE; CLINICAL ARTICLE; CYSTIC FIBROSIS; FAMILY; GENE MUTATION; GENEALOGY; HUMAN; LUNG FUNCTION; PANCREAS INSUFFICIENCY; PHENOTYPE;

ADOLESCENT; ADULT; AMINO ACID SUBSTITUTION; CHILD; CHILD, PRESCHOOL; CYSTIC FIBROSIS; FEMALE; HETEROZYGOTE DETECTION; HUMANS; MALE; MUTATION; PEDIGREE; PHENOTYPE; QUEBEC; TYROSINE;

EID: 0031953458     PISSN: 00015652     EISSN: None     Source Type: Journal    
DOI: 10.1159/000022796     Document Type: Article

References (14)

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