Improved detection of CFTR mutations in Southern California Hispanic CF patients

Human Mutation

Volumn 18, Issue 4, 2001, Pages 296-307

  Wong, Lee Jun C ^a,c   Wang, Jianjun ^a   Zhang, Ying Hua ^a   Hsu, Evelyn ^a   Heim, Ruth A ^b   Michael Bowman, C ^b   Woo, Marlyn S ^a  

^a GEORGETOWN UNIVERSITY MEDICAL CENTER   (United States)

^b CHILDREN S HOSPITAL LOS ANGELES   (United States)

^c Genzyme   (United States)

Author keywords

CFTR; Cystic fibrosis; Hispanic CF; Mutation detection method; Temporal temperature gradient gel electrophoresis; TTGE

Indexed keywords

DNA; GLUTAMINE; LYSINE; TRANSMEMBRANE CONDUCTANCE REGULATOR;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CAUCASIAN; CYSTIC FIBROSIS; DISEASE COURSE; DISEASE SEVERITY; DNA FLANKING REGION; ETHNIC GROUP; GEL ELECTROPHORESIS; GENE DELETION; GENE INSERTION; GENE ISOLATION; GENE MUTATION; GENETIC CODE; HUMAN; JEW; MAJOR CLINICAL STUDY; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PANCREAS INSUFFICIENCY; PRIORITY JOURNAL; PROTEIN LOCALIZATION; RECURRENT DISEASE; REGULATOR GENE; UNITED STATES;

ALLELES; BASE SEQUENCE; CALIFORNIA; CYSTIC FIBROSIS; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; DNA MUTATIONAL ANALYSIS; EXONS; GENE FREQUENCY; GENETIC SCREENING; GENOTYPE; HISPANIC AMERICANS; HUMANS; INTRONS; MUTATION; PHENOTYPE; POLYMORPHISM, GENETIC;

EID: 0034816370     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.1191     Document Type: Article

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