𝔖 Bobbio Scriptorium
✦   LIBER   ✦

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

✍ Scribed by Jan Hajer; Anna Kepelová; Zdena Zádorová; Milan Kment


Publisher
John Wiley and Sons
Year
2000
Tongue
English
Weight
8 KB
Volume
16
Category
Article
ISSN
1059-7794

No coin nor oath required. For personal study only.


📜 SIMILAR VOLUMES


Hereditary nonpolyposis colorectal cance
✍ 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
✍ 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