𝔖 Bobbio Scriptorium
✦   LIBER   ✦

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

No coin nor oath required. For personal study only.


📜 SIMILAR VOLUMES


Mutation screening and genotype-phenotyp
✍ Muriel Bost; Alain Lachaux; Michèle Accominotti; Antoon Vandenberghe 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 36 KB 👁 2 views

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

Genotype–phenotype correlations in von H
✍ Kai Ren Ong; Emma R. Woodward; Pip Killick; Caron Lim; Fiona Macdonald; Eamonn R 📂 Article 📅 2007 🏛 John Wiley and Sons 🌐 English ⚖ 221 KB

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