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"Four novel MSH2 / MLH1 gene mutations in portuguese HNPCC families."

Isidro G, Veiga I, Matos P, Almeida S, Bizarro S, Marshall B, Baptista M, Leite J, Regateiro F, Soares J, Castedo S, Boavida MG



Published Feb. 1, 2000 in Hum Mutat volume 15 .

Pubmed ID: 10612836

Abstract:
Hereditary non-polyposis colorectal cancer (HNPCC) is considered to be determined by germline mutations in the mismatch repair (MMR) genes, especially MSH2 and MLH1. While screening for mutations in these two genes in HNPCC portuguese families, 3 previously unreported MSH2 and 1 MLH1 mutations have been identified in families meeting strict Amsterdam criteria. Hum Mutat 15:116, 2000.


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Last modification of this entry: Oct. 6, 2010

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