Identification of a splice site mutation (2789 + 5 G>A) associated with small amounts of normal CFTR mRNA and mild cystic fibrosis

Human Mutation

Volumn 9, Issue 4, 1997, Pages 332-338

  Highsmith Jr , W Edward ^a   Burch, Lauranell H ^b   Zhou, Zhaoqing ^b   Olsen, John C ^b   Strong, Theresa V ^c   Smith, Terry ^d   Friedman, Kenneth J ^e   Silverman, Lawrence M ^e   Boucher, Richard C ^b   Collins, Francis S ^f   Knowles, Michael R ^b  

^a UNIVERSITY OF MARYLAND SCHOOL OF MEDICINE   (United States)

^b UNIVERSITY OF NORTH CAROLINA SCHOOL OF MEDICINE   (United States)

^c UNIVERSITY OF ALABAMA AT BIRMINGHAM   (United States)

^d NATIONAL UNIVERSITY OF IRELAND   (Ireland)

^e UNIVERSITY OF NORTH CAROLINA HOSPITALS   (United States)

^f NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

Author keywords

exon 14b; pancreatic sufficiency; quantitative CFTR mRNA

Indexed keywords

MESSENGER RNA; TRANSMEMBRANE CONDUCTANCE REGULATOR;

ARTICLE; CLINICAL ARTICLE; CYSTIC FIBROSIS; DNA SEQUENCE; FAMILY STUDY; FEMALE; GENE MUTATION; GENETIC ANALYSIS; HUMAN; MALE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROTEIN DETERMINATION; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RNA ANALYSIS; RNA SPLICING;

ADULT; CHLORIDES; CYSTIC FIBROSIS; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; DNA MUTATIONAL ANALYSIS; DNA, COMPLEMENTARY; EPITHELIUM; EXONS; FEMALE; HUMANS; MALE; NASAL MUCOSA; PANCREAS; PEDIGREE; POINT MUTATION; RNA SPLICING; RNA, MESSENGER; SWEAT;

EID: 16944365648     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(1997)9:4<332::AID-HUMU5>3.0.CO;2-7     Document Type: Article

References (5)

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