Immunocytochemical identification of caeruloplasmin in hepatocytes of patients with Wilson's disease
โ Scribed by R. S. Graul; O. Epstein; S. Sherlock; P. J. Scheuer
- Book ID
- 114796262
- Publisher
- John Wiley and Sons
- Year
- 2008
- Tongue
- English
- Weight
- 344 KB
- Volume
- 2
- Category
- Article
- ISSN
- 0106-9543
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In order to obtain novel mutations in the recently discovered Wilson disease gene, we screened 5 unrelated German individuals for mutations in the 21 exons and their flanking intronic sequences. We detected 9 mutations affecting the Wilson disease gene. Four of those, designated 802-808delTGTAAGT, 2
## Abstract Wilson's disease (WD) is an inherited autosomalโrecessive disorder of copper metabolism characterized by a wide variety of neurological, hepatic, and psychiatric symptoms. The aim of the present study was the development and evaluation of a clinical rating scale, termed Unified Wilson's