Intron 4 mutation in APC gene results in splice defect and attenuated FAP phenotype

Familial Cancer

Volumn 3, Issue 1, 2004, Pages 35-40

  Neklason, Deborah W ^a,b   Solomon, Cindy H ^b   Dalton, Amy L ^b   Kuwada, Scott K ^a,b   Burt, Randall W ^a,b  

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

^b UNIVERSITY OF UTAH   (United States)

Author keywords

Adenomatous polyp; APC; Attenuated adenomatous polyposis coli; Attenuated familial adenomatous polyposis; Colon cancer; Colon polyps; FAP; Intron; Splice mutation

Indexed keywords

COMPLEMENTARY DNA; APC PROTEIN;

ADENOMA; ADENOMATOUS POLYP; ADULT; ARTICLE; ATTENUATION; CANCER; COLON ADENOMA; COLON CANCER; COLON POLYPOSIS; CONTROLLED STUDY; EXON; FAMILIAL ADENOMATOUS POLYPOSIS; FAMILIAL POLYPOSIS; GENE IDENTIFICATION; GENE MUTATION; GENE SEQUENCE; HISTORY OF MEDICINE; HUMAN; HYBRID CELL; INTRON; LYMPHOBLAST; MUTANT; NUCLEOTIDE SEQUENCE; ONSET AGE; PRIORITY JOURNAL; RNA SPLICING; RNA TRANSCRIPTION; TUMOR SUPPRESSOR GENE; CASE REPORT; COLON RESECTION; FOLLOW UP; GENETICS; MALE; MOLECULAR GENETICS; MUTATION; PEDIGREE; PHENOTYPE; POLYMERASE CHAIN REACTION; SENSITIVITY AND SPECIFICITY;

ADENOMATOUS POLYPOSIS COLI; ADENOMATOUS POLYPOSIS COLI PROTEIN; ADULT; BASE SEQUENCE; COLECTOMY; FOLLOW-UP STUDIES; GENES, APC; GERM-LINE MUTATION; HUMANS; INTRONS; MALE; MOLECULAR SEQUENCE DATA; PEDIGREE; PHENOTYPE; POLYMERASE CHAIN REACTION; SENSITIVITY AND SPECIFICITY;

EID: 3142698784     PISSN: 13899600     EISSN: None     Source Type: Journal    
DOI: 10.1023/B:FAME.0000026824.85766.22     Document Type: Article

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