Deep intronicAPCmutations explain a substantial proportion of patients with familial or early-onset adenomatous polyposis-Reference-Cited by-同舟云学术

Deep intronicAPCmutations explain a substantial proportion of patients with familial or early-onset adenomatous polyposis

Published:2012-04-16 Issue:7 Volume:33 Page:1045-1050
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Hum. Mutat.

Author:

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

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/humu.22082/fullpdf

Reference30 articles.

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2. Dystrophinopathy caused by mid-intronic substitutions activating cryptic exons in the DMD gene;Beroud;Neuromuscul Disord,2004

3. Analysis of canonical and non-canonical splice sites in mammalian genomes;Burset;Nucleic Acids Res,2000

4. Mutation deep within an intron of MSH2 causes Lynch syndrome;Clendenning;Fam Cancer,2011

5. A G->A transition creates a branch point sequence and activation of a cryptic exon, resulting in the hereditary disorder neurofibromatosis 2;De Klein;Hum Mol Genet,1998

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