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
Pseudodeficiency of arylsulfatase A: a common genetic polymorphism with possible disease implications
β Scribed by Charlotte Hohenschutz; Peter Eich; Waltraut Friedl; Abdul Waheed; Ernst Conzelmann; Peter Propping
- Publisher
- Springer
- Year
- 1989
- Tongue
- English
- Weight
- 550 KB
- Volume
- 82
- Category
- Article
- ISSN
- 0340-6717
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