Identification of the Wilson's disease gene: Clues for disease pathogenesis and the potential for molecular diagnosis
โ Scribed by Michael L. Schilsky
- Publisher
- John Wiley and Sons
- Year
- 1994
- Tongue
- English
- Weight
- 665 KB
- Volume
- 20
- Category
- Article
- ISSN
- 0270-9139
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โฆ Synopsis
In the past, this section reviewed a potpourri of articles in each issue. We introduce in this issue a new feature of Hepatology Elsewhere. Whenever it is appropriate, we will showcase articles with a common theme. Given the explosion of new medical information pertaining to hepatobiliary physiology and pathology, we believe that by encompassing a common theme and providing reviews on relevant articles in one issue, you will reap the most benefit from this section. The feature articles and their reviews in this issue provide a comprehensive discussion of a major medical breakthrough in the field of inherited metabolic liver diseases (i.e., the identification and characterization of the Wilson's disease gene). We hope you will find this special feature enjoyable.
๐ SIMILAR VOLUMES
Wilson disease (WD) is an autosomal recessive disorder of copper metabolism. A minimum recombinant analysis using D13S22, ESD, RB1, D13S31, D13S55, D13S26, D13S39, and D13S12, all localized at 13q14-q22, has been carried out in 20 WD families of Northwest-European origin. No inconsistencies have bee
McArdle disease is a rare autosomal recessive disorder of the muscle glycogen metabolism caused by mutations in the muscle glycogen phosphorylase gene. Until now, a total number of 11 different mutations in the coding region or splice sites of the myophosphorylase gene have been identified. In contr
A retrospective data analysis on liver transplantation for Wilson's disease (WD) was performed among Italian Liver Transplant Centers. Thirty-seven cases were identified. The main indication for liver transplantation was chronic advanced liver disease in 78% of patients. Mixed hepatic and neuropsych