A large novel deletion in the APC promoter region causes gene silencing and leads to classical familial adenomatous polyposis in a Manitoba Mennonite kindred

Human Genetics

Volumn 124, Issue 5, 2008, Pages 535-541

  Charames, George S ^a,b   Ramyar, Lily ^a   Mitri, Angela ^a   Berk, Terri ^a   Cheng, Hong ^a,b   Jung, Jack ^c,d   Bocangel, Patricia ^e   Chodirker, Bernie ^f   Greenberg, Cheryl ^f   Spriggs, Elizabeth ^f,g   Bapat, Bharati ^a,b  

^a MOUNT SINAI HOSPITAL   (Canada)

^b UNIVERSITY OF TORONTO   (Canada)

^c Children's Hospital   (Canada)

^d WESTERN UNIVERSITY   (Canada)

^e HEALTH SCIENCES CENTRE   (Canada)

^f UNIVERSITY OF MANITOBA   (Canada)

^g Diagnostic Services of Manitoba Inc   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

APC PROTEIN;

ADENOMATOUS POLYP; ADULT; ARTICLE; CANADA; CANCER INCIDENCE; CARCINOGENESIS; CASE REPORT; CONTROLLED STUDY; ETHNICITY; EXON; FAMILIAL ADENOMATOUS POLYPOSIS; FRAMESHIFT MUTATION; GENE DELETION; GENE MUTATION; GENE SILENCING; GENETIC IDENTIFICATION; GENETIC LINKAGE; GENETIC TRANSCRIPTION; HUMAN; LINKAGE ANALYSIS; MALE; METHYLATION; NONSENSE MUTATION; PRIORITY JOURNAL; PROMOTER REGION; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SEQUENCE ANALYSIS; TUMOR SUPPRESSOR GENE;

ADENOMATOUS POLYPOSIS COLI; ADULT; BASE SEQUENCE; DNA PRIMERS; ETHNIC GROUPS; FEMALE; FOUNDER EFFECT; GENE SILENCING; GENES, APC; GERM-LINE MUTATION; HUMANS; LINKAGE (GENETICS); MALE; MANITOBA; PEDIGREE; PROMOTER REGIONS, GENETIC; SEQUENCE DELETION;

EID: 57049084529     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00439-008-0579-4     Document Type: Article

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