Qualitative and quantitative analysis of mRNA associated with four putative splicing mutations (621+3A→G, 2751+2T→A, 296+1G→C, 1717-9T→C-D565G) and one nonsense mutation (E822X) in the CFTR gene

Human Genetics

Volumn 109, Issue 6, 2001, Pages 592-601

  Tzetis, Maria ^a   Efthymiadou, Alexandra ^a   Doudounakis, Stavros ^b   Kanavakis, Emmanuel ^a  

^a UNIVERSITY OF ATHENS   (Greece)

^b AGHIA SOPHIA CHILDREN S HOSPITAL   (Greece)

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENTARY DNA; MESSENGER RNA; TRANSMEMBRANE CONDUCTANCE REGULATOR;

ADOLESCENT; ADULT; ALLELE; ARTICLE; CHILD; CLINICAL ARTICLE; COMPARATIVE STUDY; CONTROLLED STUDY; CYSTIC FIBROSIS; DISEASE SEVERITY; DONOR SITE; ENHANCER REGION; EPITHELIUM CELL; EXON; FEMALE; GENE DISRUPTION; GENE EXPRESSION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC POLYMORPHISM; GENETIC TRANSCRIPTION; HUMAN; HUMAN CELL; INTRON; LUNG DISEASE; LUNG FUNCTION; MALE; MISSENSE MUTATION; NONSENSE MUTATION; NOSE MUCOSA; PANCREAS DISEASE; PANCREAS FUNCTION DISORDER; PHENOTYPE; PRIORITY JOURNAL; QUALITATIVE ANALYSIS; QUANTITATIVE ANALYSIS; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RNA EXTRACTION; RNA SPLICING; WILD TYPE;

ADOLESCENT; ADULT; BASE SEQUENCE; CHILD; CHILD, PRESCHOOL; CODON, NONSENSE; CYSTIC FIBROSIS; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; FEMALE; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MUTATION; RNA SPLICING; RNA, MESSENGER;

EID: 0035687373     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00439-001-0631-0     Document Type: Article

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