## MUTATION NOTES 395 in TCT, which would cause a frameshift from codon 642 ( C l T a A T T + CXTGATT). This frameshift mutation would generate a stop codon immediately downstream to produce a truncated hMLHl protein. This is the first report of a somatic mutation in DNA mismatch repair genes foun
✦ LIBER ✦
Known and novel sarcoglycan gene mutations in Portuguese patients
✍ Scribed by M.R. dos Santos; E.M. Vieira; M.G. Ribeiro; M.M. Santos; R. Gomes; A. Guimaräcs
- Book ID
- 117670763
- Publisher
- Elsevier Science
- Year
- 1997
- Tongue
- English
- Weight
- 131 KB
- Volume
- 7
- Category
- Article
- ISSN
- 0960-8966
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Mutations in the sarcoglycan genes cause autosomalrecessive muscular dystrophies. Because sarcoglycan genes and their protein products are highly expressed both in skeletal and cardiac muscle, patients with these mutations might be expected to be at risk to develop dilated cardiomyopathy. We therefo