Constitutive APC exon 14 skipping in early-onset familial adenomatous polyposis reveals a dramatic quantitative distortion of APC genes-specific isoforms

Human Mutation

Volumn 10, Issue 3, 1997, Pages 201-206

  Bala, Shashi ^a   Sulekova, Zora ^a   Ballhausen, Wolfgang G ^a  

^a UNIVERSITY OF ERLANGEN NUREMBERG   (Germany)

Author keywords

Adenomatous polyposis coli; Alternative splicing; APC tumor suppressor gene; Colorectal cancer

Indexed keywords

DINUCLEOTIDE; DNA; MESSENGER RNA; PROTEIN;

ARTICLE; CASE REPORT; COLON POLYPOSIS; CONTROLLED STUDY; DISEASE PREDISPOSITION; DNA SEQUENCE; EXON; FEMALE; GENE; GENOTYPE; HUMAN; HUMAN CELL; IMMUNOBLOTTING; MALE; ONSET AGE; OPEN READING FRAME; PHENOTYPE; POLYACRYLAMIDE GEL ELECTROPHORESIS; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; TUMOR SUPPRESSOR GENE;

ADENOMATOUS POLYPOSIS COLI; ADENOMATOUS POLYPOSIS COLI PROTEIN; ADOLESCENT; ADULT; ALTERNATIVE SPLICING; CLONING, MOLECULAR; CYTOSKELETAL PROTEINS; DNA MUTATIONAL ANALYSIS; EXONS; FEMALE; GENES, APC; HUMANS; ISOMERISM; MALE; RNA, MESSENGER;

EID: 0030769122     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(1997)10:3<201::AID-HUMU4>3.0.CO;2-L     Document Type: Article

References (6)

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2. Caspari R, Olschwang S, Friedl W, Mandl M, Boisson C, Böker T, Augustin A, Kadmon M, Möslem G, Thomas G, Propping P (1995) Familial adenomatous polyposis: Desmoid tumors and lack of ophthalmic lesions (CHRPE) associated with APC mutations beyond codon 1444. Hum Mol Genet 4:337-340.
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