Familial adenomatous polyposis: Aberrant splicing due to missense or silent mutations in theAPCgene-Reference-Cited by-同舟云学术

Familial adenomatous polyposis: Aberrant splicing due to missense or silent mutations in theAPCgene

Published:2004-11 Issue:5 Volume:24 Page:370-380
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Hum. Mutat.

Author:

Aretz Stefan,Uhlhaas Siegfried,Sun Yuli,Pagenstecher Constanze,Mangold Elisabeth,Caspari Reiner,Möslein Gabriela,Schulmann Karsten,Propping Peter,Friedl Waltraut

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference47 articles.

1. Frequency and parental origin of de novo APC mutations in familial adenomatous polyposis;Aretz;Eur J Hum Genet,2004

2. Mutations affecting mRNA splicing are the most common molecular defects in patients with neurofibromatosis type 1;Ars;Hum Mol Genet,2000

3. Characterization of disease-associated mutations affecting an exonic splicing enhancer and two cryptic splice sites in exon 13 of the cystic fibrosis transmembrane conductance regulator gene;Aznarez;Hum Mol Genet,2003

4. Multiple products in the protein truncation test due to alternative splicing in the adenomatous polyposis coli (APC) gene;Bala;Hum Genet,1996

5. Constitutive APC exon 14 skipping in early-onset familial adenomatous polyposis reveals a dramatic quantitative distortion of APC gene-specific isoforms;Bala;Hum Mutat,1997

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