CFTR transcription defects in pancreatic sufficient cystic fibrosis patients with only one mutation in the coding region of CFTR

Journal of Medical Genetics

Volumn 48, Issue 4, 2011, Pages 235-241

  Sheridan, Molly B ^a,b   Hefferon, Timothy W ^c   Wang, Nulang ^a   Merlo, Christian ^a   Milla, Carlos ^d,e   Borowitz, Drucy ^f   Green, Eric D ^c   Mogayzel Jr , Peter J ^a   Cutting, Garry R ^a  

^a DEPARTMENT OF PATHOLOGY   (United States)

^b CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

^c NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^d UNIVERSITY OF MINNESOTA MEDICAL SCHOOL   (United States)

^e STANFORD UNIVERSITY SCHOOL OF MEDICINE   (United States)

^f UNIVERSITY AT BUFFALO   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

MESSENGER RNA; TRANSMEMBRANE CONDUCTANCE REGULATOR;

ARTICLE; CLINICAL ARTICLE; CYSTIC FIBROSIS; DNA SEQUENCE; GENE DELETION; GENE MUTATION; HUMAN; HUMAN CELL; NOSE MUCOSA; PANCREAS; PANCREAS SUFFICIENCY CYSTIC FIBROSIS; PRIORITY JOURNAL; PROMOTER REGION; RNA SPLICING; RNA TRANSCRIPTION;

AMINO ACID SUBSTITUTION; CYSTIC FIBROSIS; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; FEMALE; HUMANS; MALE; PHENOTYPE; RNA, MESSENGER; SEQUENCE ANALYSIS, DNA; SEQUENCE DELETION; TRANSCRIPTION, GENETIC;

EID: 79953678972     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmg.2010.083287     Document Type: Article

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