Mutation characterization of CFTR gene in 206 Northern Irish CF families: Thirty mutations, including two novel, account for ~94% of CF chromosomes

Human Mutation

Volumn 8, Issue 4, 1996, Pages 340-347

  Hughes, David J ^a   Hill, Alison J M ^b   Macek Jr , Milan ^d   Redmond, Aileen O ^c   Nevin, Norman C ^b   Graham, Colin A ^b  

^a QUEEN'S UNIVERSITY BELFAST   (United Kingdom)

^b ROYAL GROUP OF HOSPITALS TRUST   (United Kingdom)

^c ROYAL BELFAST HOSPITAL FOR SICK CHILDREN   (United Kingdom)

^d CHARLES UNIVERSITY   (Czech Republic)

Author keywords

CFTR; Cystic fibrosis; DGGE; Mutation; Northern Ireland; Screening

Indexed keywords

RESTRICTION ENDONUCLEASE; TRANSMEMBRANE CONDUCTANCE REGULATOR;

ARTICLE; CHROMOSOME MUTATION; CYSTIC FIBROSIS; DNA DETERMINATION; EXON; GENE MUTATION; GENE SEQUENCE; GENETIC POLYMORPHISM; GENETIC SCREENING; HUMAN; PRIORITY JOURNAL; SEQUENCE ANALYSIS;

ALLELES; CYSTIC FIBROSIS; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; DNA TRANSPOSABLE ELEMENTS; EXONS; HUMANS; INTRONS; MUTATION; NORTHERN IRELAND; OLIGODEOXYRIBONUCLEOTIDES; POINT MUTATION; POLYMORPHISM, GENETIC; RESTRICTION MAPPING; SEQUENCE DELETION; SPECTROMETRY, FLUORESCENCE;

EID: 0029797823     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(1996)8:4<340::AID-HUMU7>3.0.CO;2-B     Document Type: Article

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