Deep intronic APC mutations explain a substantial proportion of patients with familial or early-onset adenomatous polyposis

Human Mutation

Volumn 33, Issue 7, 2012, Pages 1045-1050

  Spier, Isabel ^a   Horpaopan, Sukanya ^a   Vogt, Stefanie ^a   Uhlhaas, Siegfried ^a   Morak, Monika ^b,c   Stienen, Dietlinde ^a   Draaken, Markus ^a   Ludwig, Michael ^a   Holinski Feder, Elke ^b,c   Nöthen, Markus M ^a   Hoffmann, Per ^a   Aretz, Stefan ^a  

^a UNIVERSITY OF BONN   (Germany)

^b LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

^c Center of Medical Genetics and Primary Health Care   (Armenia)

Author keywords

Aberrant splicing; APC; Exon skipping; Familial adenomatous polyposis; Pseudoexons

Indexed keywords

APC PROTEIN; MESSENGER RNA;

ADENOMATOUS POLYP; ADULT; ARTICLE; DNA DETERMINATION; FAMILIAL DISEASE; GENE DELETION; GENE INSERTION; GENE MUTATION; HUMAN; MAJOR CLINICAL STUDY; PRIORITY JOURNAL; RNA ANALYSIS; RNA SPLICING;

ADENOMATOUS POLYPOSIS COLI; ADENOMATOUS POLYPOSIS COLI PROTEIN; GENETIC PREDISPOSITION TO DISEASE; HUMANS; INTRONS; MUTATION;

EID: 84861901473     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22082     Document Type: Article

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