Variable penetrance and expressivity of the splice altering 5T sequence in the cystic fibrosis gene

Genetic Testing

Volumn 11, Issue 1, 2007, Pages 32-44

  Lebo, Roger V ^a,b   Grody, Wayne W ^c  

^a AKRON CHILDREN'S HOSPITAL   (United States)

^b NORTHEAST OHIO MEDICAL UNIVERSITY   (United States)

^c UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

AGENESIS; CFTR GENE; CLINICAL FEATURE; CYSTIC FIBROSIS; DISEASE SEVERITY; FETUS RISK; GENE FREQUENCY; GENE SEQUENCE; GENETIC SCREENING; GENOTYPE PHENOTYPE CORRELATION; HETEROZYGOTE DETECTION; HUMAN; MUTATIONAL ANALYSIS; PENETRANCE; POPULATION GENETIC PARAMETERS; PREDICTION; PRENATAL DIAGNOSIS; REGULATOR GENE; REVIEW; RNA SPLICING; STATISTICAL ANALYSIS; VAS DEFERENS;

CYSTIC FIBROSIS; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; FEMALE; HUMANS; PREGNANCY; RISK; RNA SPLICING;

EID: 34147148573     PISSN: 10906576     EISSN: None     Source Type: Journal    
DOI: 10.1089/gte.2006.9997     Document Type: Review

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