Sensitivity of the denaturing gradient gel electrophoresis technique in detection of known mutations and novel Asian mutations in the CFTR gene

Human Mutation

Volumn 9, Issue 2, 1997, Pages 136-147

  Macek Jr , Milan ^a,b   Mercier, Bernard ^c   Macková, Alice ^b   Miller, Patrice Weiner ^a   Hamosh, Ada ^a   Férec, Claude ^d   Cutting, Garry R ^a,b  

^a JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b UNIVERSITY HOSPITAL MOTOL   (Czech Republic)

^c Ctr Transfus Sang/Biogenet   (France)

^d NONE

Author keywords

Asians; CFTR; cystic fibrosis; DGGE; MELT 94; mutations; sensitivity; specificity; SQHTX

Indexed keywords

TRANSMEMBRANE CONDUCTANCE REGULATOR;

ARTICLE; ASIAN; CONTROLLED STUDY; CYSTIC FIBROSIS; DENATURING GRADIENT GEL ELECTROPHORESIS; DIAGNOSTIC VALUE; FEMALE; GENE MUTATION; GENETIC SCREENING; HUMAN; MAJOR CLINICAL STUDY; MALE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL;

ALLELES; ASIAN CONTINENTAL ANCESTRY GROUP; CYSTIC FIBROSIS; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; DNA MUTATIONAL ANALYSIS; DNA PRIMERS; ELECTROPHORESIS, POLYACRYLAMIDE GEL; EXONS; FEMALE; HUMANS; MALE; MODELS, GENETIC; MUTATION; POLYMERASE CHAIN REACTION; RETROSPECTIVE STUDIES; SENSITIVITY AND SPECIFICITY;

EID: 16944363988     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(1997)9:2<136::AID-HUMU6>3.0.CO;2-7     Document Type: Article

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