CDKN1C mutation in Wiedemann-Beckwith syndrome patients reduces RNA splicing efficiency and identifies a splicing enhancer

American Journal of Medical Genetics

Volumn 127, Issue 3, 2004, Pages 268-276

  Lew, Jocelyne M ^a   Fei, Yan Ling ^b   Aleck, Kirk ^c   Blencowe, Benjamin J ^d   Weksberg, Rosanna ^a,b,d   Sadowski, Paul D ^a  

^a UNIVERSITY OF TORONTO   (Canada)

^b HOSPITAL FOR SICK CHILDREN   (Canada)

^c UNIVERSITY OF ARIZONA   (United States)

^d UNIVERSITY OF TORONTO   (Canada)

Author keywords

Autosomal dominant pedigree; CDKN1C gene; RNA splicing; Wiedemann Beckwith syndrome

Indexed keywords

CYCLIN DEPENDENT KINASE INHIBITOR 1C; GENE PRODUCT; GUANINE; THYMINE; UNCLASSIFIED DRUG;

ALLELE; ARTICLE; BECKWITH WIEDEMANN SYNDROME; CELL LINE; CHROMOSOME 11P; CONTROLLED STUDY; DISEASE ASSOCIATION; EXTRACHROMOSOMAL INHERITANCE; FIBROBLAST; GENE MUTATION; GENETIC TRANSFECTION; GENOME IMPRINTING; HETEROZYGOTE; HUMAN; HUMAN CELL; INTRON; NUCLEOTIDE SEQUENCE; PATHOGENESIS; PEDIGREE; PRIORITY JOURNAL; PROTEIN EXPRESSION; RNA SPLICING;

EID: 2542487636     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.30020     Document Type: Article

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