✦ LIBER ✦

Hereditary nonpolyposis colorectal cancer (HNPCC): Eight novel germline mutations in hMSH2 or hMLH1 genes

✍ Scribed by Martin Wehner; Lutz Buschhausen; Christof Lamberti; Roland Kruse; Reiner Caspari; Peter Propping; Waltraut Friedl

Publisher: John Wiley and Sons
Year: 1997
Tongue: English
Weight: 136 KB
Volume: 10
Category: Article
ISSN: 1059-7794
DOI: 10.1002/(sici)1098-1004(1997)10:3<241::aid-humu12>3.0.co;2-#

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Germline hMSH2and hMLH1 gene mutations i

Germline hMSH2and hMLH1 gene mutations in incomplete HNPCC families

✍ Qing Wang; Françoise Desseigne; Christine Lasset; Jean-Christophe Saurin; Claudi 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 French ⚖ 145 KB

Hereditary non-polyposis colon cancer (HNPCC) is a common hereditary disease characterized by a predisposition to an early onset of colorectal cancer. The majority of the HNPCC families carry germline mutations of either hMSH2 or hMLH1 genes, whereas germline mutations of hPMS1 and hPMS2 genes have

hMLH1, hMSH2 and hMSH6 mutations in here

hMLH1, hMSH2 and hMSH6 mutations in hereditary non-polyposis colorectal cancer families from Southern Sweden

✍ Maria Planck; Anjila Koul; Eva Fernebro; Åke Borg; Ulf Kristoffersson; Håkan Ols 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 French ⚖ 101 KB 👁 2 views

We have screened 17 Southern Sweden individuals/families with suspected hereditary non-polyposis colorectal cancer (HNPCC) for mutations in the DNA-mismatch repair genes hMLH1, hMSH2 and hMSH6 using denaturing gradient gel electrophoresis, protein truncation test and direct DNA sequencing. The famil

Novel germline mutation (300-305delAGTTG

Novel germline mutation (300-305delAGTTGA) in the human MSH2 gene in hereditary non-polyposis colorectal cancer (HNPCC)

✍ S. Glasl; L. Papatheodorou; Gustavo Baretton; Ch. Jung; M. Gross 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 159 KB 👁 1 views

Hereditary nonpolyposis colorectal cance

Hereditary nonpolyposis colorectal cancer: Identification of novel germline mutations in two kindreds not fulfilling the Amsterdam criteria

✍ Barbara Quaresima; Cristina Grandinetti; Francesco Baudi; PierFrancesco Tassone; 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 104 KB 👁 2 views

Hunter syndrome is an X-linked lysosomal storage disorder caused by a deficiency of the lysosomal enzyme iduronate-2-sulfatase (IDS). The IDS deficiency can be caused by several different types of mutations in the IDS gene. We have performed a molecular and mutation analysis of a total of 19 unrelat

Mutation sharing, predominant involvemen

Mutation sharing, predominant involvement of the MLH1 gene and description of four novel mutations in hereditary nonpolyposis colorectal cancer

✍ Mari Holmberg; Paula Kristo; Robert B. Chadwicks; Jukka-Pekka Mecklin; Heikki Jä 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 37 KB 👁 2 views

Worldwide, the DNA mismatch repair genes MSH2 and MLH1 account for a major share and almost equal proportions of hereditary nonpolyposis colorectal cancer (HNPCC). Furthermore, the predisposing mutation usually varies from kindred to kindred. In this study, we screened 29 verified or putative HNPCC

Two novel germline mutations (Y548X and

Two novel germline mutations (Y548X and K732X) of the MLH1 gene in Czech patients with hereditary nonpolyposis colorectal cancer

✍ Jan Hajer; Anna Kepelová; Zdena Zádorová; Milan Kment 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 8 KB 👁 1 views