Improved detection of cystic fibrosis mutations in the heterogeneous U.S. population using an expanded, pan-ethnic mutation panel

Genetics in Medicine

Volumn 3, Issue 3, 2001, Pages 168-176

  Heim, Ruth A ^a   Sugarman, Elaine A ^a   Allitto, Bernice A ^a  

^a DNA Diagnostic Laboratory   (United States)

Author keywords

Carrier screening; CFTR mutations; Cystic fibrosis; Molecular diagnosis; Population genetics

Indexed keywords

OLIGONUCLEOTIDE; TRANSMEMBRANE CONDUCTANCE REGULATOR;

ALLELE; ARTICLE; ASIAN; CAUCASIAN; CHROMOSOME; CONTROLLED STUDY; CYSTIC FIBROSIS; ETHNIC DIFFERENCE; ETHNIC GROUP; GENE FREQUENCY; GENE MUTATION; GENETIC HETEROGENEITY; GENETIC SCREENING; HETEROZYGOTE DETECTION; HUMAN; HYBRIDIZATION; JEW; MAJOR CLINICAL STUDY; NEGRO; POPULATION GENETICS; PREVALENCE; RACE; SENSITIVITY AND SPECIFICITY; UNITED STATES;

EID: 0035746484     PISSN: 10983600     EISSN: None     Source Type: Journal    
DOI: 10.1097/00125817-200105000-00004     Document Type: Article

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