We have studied a patient with Wilson disease (WD), belonging to a family segregating late-onset, dominant cerebellar ataxia. Analysis of the WD gene showed that the patient is a compound heterozygote, carrying the 14His1069Gln mutation from the father and the 8Gly710Ser mutation from the mother. Th
Severe Lhermitte-Duclos disease with unique germline mutation of PTEN
β Scribed by Sutphen, Rebecca; Diamond, Theresa M.; Minton, Susan E.; Peacocke, Monica; Tsou, Hui C.; Root, Allen W.
- Publisher
- John Wiley and Sons
- Year
- 1999
- Tongue
- English
- Weight
- 34 KB
- Volume
- 82
- Category
- Article
- ISSN
- 0148-7299
- DOI
- 10.1002/(sici)1096-8628(19990212)82:4<290::aid-ajmg3>3.0.co;2-0
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