Phenotype-genotype correlations in patients with Wilson Disease (WD)
✍ Scribed by Peter Ferenci; Claudia Polli; Cathrin Smolarek; Karel Caca; Hartmuth Schmidt; Gabor Firneisz; Vera Kupcova; Cihan Yurdaydin; Ferenc Szalay; Wolfgang Vogel; Bashkim Resuli; Anna Czlonkowska; Wolfgang Stremmel; Frieder Berr
- Book ID
- 118565487
- Publisher
- Elsevier Science
- Year
- 2002
- Tongue
- English
- Weight
- 107 KB
- Volume
- 36
- Category
- Article
- ISSN
- 0168-8278
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Wilson disease (WD) is an autosomal recessive disorder of copper transport, manifesting as chronic liver disease and/or neurologic impairment due to accumulation of copper in several tissues, principally the liver and the brain. The WD gene encodes a copper transporting P-type ATPase that is defecti
Communicated by David N. Cooper von Hippel-Lindau (VHL) disease is a dominantly inherited familial cancer syndrome resulting from mutations in the VHL tumor suppressor gene. VHL disease displays marked variation in expression and the presence of pheochromocytoma has been linked to missense VHL mutat