Clinical utility gene card for: MUTYH-associated polyposis (MAP), autosomal recessive colorectal adenomatous polyposis
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics(clinical),Genetics
Link
http://www.nature.com/articles/ejhg201077.pdf
Reference8 articles.
1. Aretz S, Uhlhaas S, Goergens H et al: MUTYH-associated polyposis (MAP): 70 of 71 patients with biallelic mutations present with an attenuated or atypical phenotype. Int J Cancer 2006; 119: 807–814.
2. Poulsen ML, Bisgaard ML : MUTYH associated polyposis (MAP). Curr Genomics 2008; 9: 420–435.
3. Sampson JR, Jones N : MUTYH-associated polyposis. Best Pract Res Clin Gastroenterol 2009; 23: 209–218.
4. Molatore S, Russo MT, D’Agostino VG et al: MUTYH mutations associated with familial adenomatous polyposis: functional characterization by a mammalian cell-based assay. Hum Mutat 2010; 31: 159–166.
5. Cleary SP, Cotterchio M, Jenkins MA et al: Germline MutY human homologue mutations and colorectal cancer: a multisite case–control study. Gastroenterology 2009; 136: 1251–1260.
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2. Heterozygous deleterious MUTYH variants as a driver for tumorigenesis;2021-06-13
3. A novel pathogenic single nucleotide germline deletion in APC gene in a four generation Chinese family with familial adenomatous polyposis;Scientific Reports;2017-09-27
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