The Clinical Phenotype of Lynch Syndrome Due to Germ-Line PMS2 Mutations
β Scribed by Leigha Senter; Mark Clendenning; Kaisa Sotamaa; Heather Hampel; Jane Green; John D. Potter; Annika Lindblom; Kristina Lagerstedt; Stephen N. Thibodeau; Noralane M. Lindor; Joanne Young; Ingrid Winship; James G. Dowty; Darren M. White; John L. Hopper; Laura Baglietto; Mark A. Jenkins; Albert de la Chapelle
- Book ID
- 119760388
- Publisher
- Elsevier Science
- Year
- 2008
- Tongue
- English
- Weight
- 932 KB
- Volume
- 135
- Category
- Article
- ISSN
- 0016-5085
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Missense alterations of the mismatch repair gene MLH1 have been identified in a significant proportion of individuals suspected of having Lynch syndrome, a hereditary syndrome that predisposes for cancer of colon and endometrium. The pathogenicity of many of these alterations, however, is unclear. A