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
✦ LIBER ✦
Wilson’s disease with Leu492Ser mutation and arylsulfatase A pseudodeficiency: just a coincidence?
✍ Scribed by C. Battisti; M.T. Dotti; G. Loudianos; V. Dessì; S. Battistini; T. Amato; A. Rufa; A. Federico
- Book ID
- 106267812
- Publisher
- Springer Milan
- Year
- 2004
- Tongue
- English
- Weight
- 43 KB
- Volume
- 25
- Category
- Article
- ISSN
- 1590-1874
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