𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Novel mutations of theATP7Bgene in Japanese patients with Wilson disease

✍ Scribed by Yoichiro Kusuda; Kazuyuki Hamaguchi; Tetsu Mori; Rie Shin; Masataka Seike; Toshiie Sakata


Publisher
Nature Publishing Group
Year
2000
Tongue
English
Weight
98 KB
Volume
45
Category
Article
ISSN
1435-232X

No coin nor oath required. For personal study only.


πŸ“œ SIMILAR VOLUMES


Mutation analysis in patients with Wilso
✍ Regina Haas; Bertha Gutierrez-Rivero; Judith Knoche; Klaus BΓΆker; Michael P. Man πŸ“‚ Article πŸ“… 1999 πŸ› John Wiley and Sons 🌐 English βš– 21 KB πŸ‘ 2 views

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

A novel PTEN mutation in a Japanese pati
✍ Y. Kubo; Y. Urano; Y. Hida; T. Ikeuchi; M. Nomoto; K. Kunitomo; S. Arase πŸ“‚ Article πŸ“… 2000 πŸ› John Wiley and Sons 🌐 English βš– 446 KB

## Abstract Cowden disease (CD) is an autosomal dominant syndrome characterized by multiple hamartomatous lesions and an increased risk for malignancies. Recent evidence has indicated that the PTEN gene, encoding a protein tyrosine phosphatase, is the CD susceptibility gene. However, another line o

Identification of novel ATP7B gene mutat
✍ Sangwook Park; Jung-Young Park; Gu-Hwan Kim; Jin-Ho Choi; Kyung-Mo Kim; Jong-Bae πŸ“‚ Article πŸ“… 2007 πŸ› John Wiley and Sons 🌐 English βš– 281 KB πŸ‘ 1 views

## Communicated by Jurgen Horst Wilson disease (WND), an autosomal recessive disorder of copper transport, is characterized by excessive accumulation of intracellular copper in liver and extrahepatic tissues because of impaired biliary copper excretion and disturbed incorporation of copper into ce