Large intron 14 rearrangement in APC results in splice defect and attenuated FAP

Human Genetics

Volumn 127, Issue 3, 2010, Pages 359-369

  Tuohy, Thérèse M F ^a   Done, Michelle W ^a   Lewandowski, Michelle S ^a   Shires, Patricia M ^b   Saraiya, Devki S ^c   Huang, Sherry C ^d   Neklason, Deborah W ^a,e   Burt, Randall W ^a,e  

^a UNIVERSITY OF UTAH   (United States)

^b Saint Luke's Hospital of Kansas City   (United States)

^c UNIVERSITY OF TEXAS   (United States)

^d UNIVERSITY OF CALIFORNIA   (United States)

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

Author keywords

[No Author keywords available]

Indexed keywords

APC PROTEIN; MESSENGER RNA;

ADULT; ALU SEQUENCE; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CANCER RISK; CANCER SUSCEPTIBILITY; CHROMOSOME 6Q; CODON; COLON POLYPOSIS; COLORECTAL CANCER; CONTROLLED STUDY; DISEASE SEVERITY; EXON; FAMILY STUDY; FEMALE; FRAMESHIFT MUTATION; GENE DELETION; GENE LOCUS; GENE MUTATION; GENE REARRANGEMENT; GENETIC ANALYSIS; GENETIC RECOMBINATION; GENETIC VARIABILITY; HEMICOLECTOMY; HUMAN; HUMAN CELL; INHERITANCE; INTRON; MALE; ONSET AGE; PHENOTYPE; POLYMERASE CHAIN REACTION; PREDICTION; PRIORITY JOURNAL; SEQUENCE ANALYSIS; SPLICING DEFECT;

ADENOMATOUS POLYPOSIS COLI; ADOLESCENT; ADULT; AGED; AGED, 80 AND OVER; ALTERNATIVE SPLICING; BASE SEQUENCE; FEMALE; GENE DELETION; GENES, APC; HUMANS; INTRONS; MALE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; PEDIGREE; POLYMORPHISM, GENETIC; RNA SPLICE SITES; YOUNG ADULT;

EID: 77949262267     PISSN: 03406717     EISSN: 14321203     Source Type: Journal    
DOI: 10.1007/s00439-009-0776-9     Document Type: Article

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