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
✦ 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
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