Frameshift mutation in the PTCH2 gene can cause nevoid basal cell carcinoma syndrome

By Fujii Katsunori   Ohashi Hirofumi   Suzuki Maiko   Hatsuse Hiromi   Shiohama Tadashi   Uchikawa Hideki   Miyashita Toshiyuki  

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Springer Publishing Company

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A distinct mutation on the alternative splice site of APC exon 9 results in attenuated familial adenomatous polyposis phenotype

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Springer Publishing Company

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Heterozygosity for a Point Mutation in an Invariant Splice Donor Site of Dihydropyrimidine Dehydrogenase and Severe 5-Fluorouracil Related Toxicity

By Van Kuilenburg A.B.P.   Vreken P.   Beex L.V.A.M.   Meinsma R.   Van Lenthe H.   De Abreu R.A.   Van Gennip A.H.  

European Journal of Cancer, Vol. 33, Iss. 13, 1997-11 ,pp. : 2258-2264

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Nine novel pathogenic germline mutations in MLH1, MSH2, MSH6 and PMS2 in families with Lynch syndrome

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An unusual case of Turcot’s syndrome associated with ileal adenocarcinoma, intestinal non-Hodgkin’s lymphoma, and duodenal adenocarcinoma. Review of the classification and genetic basis of Turcot’s syndrome

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