Genotype-phenotype relationship for five CFTR mutations frequently identified in western France

Journal of Cystic Fibrosis

Volumn 3, Issue 4, 2004, Pages 259-263

  Duguépéroux, Ingrid ^a,b   De Braekeleer, Marc ^a,b  

^a FACULTÉ DE MÉDECINE ET DES SCIENCES DE LA SANTÉ   (France)

^b INSERM   (France)

Author keywords

I507; 1078delT; 4005+1G >A; Cystic fibrosis; E60X; France; Genotype phenotype; Rare mutations; W846X

Indexed keywords

TRANSMEMBRANE CONDUCTANCE REGULATOR;

ADOLESCENT; ADULT; ARTICLE; CHILD; CLINICAL FEATURE; CONTROLLED STUDY; CYSTIC FIBROSIS; DATA ANALYSIS; DISEASE SEVERITY; FEMALE; FRANCE; GENE DELETION; GENE MUTATION; GENETIC VARIABILITY; GENOTYPE PHENOTYPE CORRELATION; HEALTH CENTER; HETEROZYGOTE; HOMOZYGOSITY; HUMAN; INFORMATION PROCESSING; LUNG DISEASE; MALE; NUCLEIC ACID BASE SUBSTITUTION; PANCREAS FUNCTION; PHENOTYPE; REGIONALIZATION; REGISTER;

ADOLESCENT; ADULT; ALLELES; CHILD; CHILD, PRESCHOOL; CYSTIC FIBROSIS; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; FEMALE; FRANCE; GENE FREQUENCY; GENOTYPE; HUMANS; INFANT; INFANT, NEWBORN; MALE; MUTATION; PHENOTYPE; REGISTRIES; RETROSPECTIVE STUDIES;

EID: 13644260469     PISSN: 15691993     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jcf.2004.07.004     Document Type: Article

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