𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Identification and molecular characterization of 18 novel mutations in the ATP7B gene from Indian Wilson disease patients: genotype

Book ID
110888043
Publisher
John Wiley and Sons
Year
2005
Tongue
English
Weight
70 KB
Volume
67
Category
Article
ISSN
0009-9163

No coin nor oath required. For personal study only.

πŸ“œ SIMILAR VOLUMES

Identification of novel ATP7B gene mutat
Identification of novel ATP7B gene mutations and their functional roles in Korean patients with Wilson disease
✍ 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

Wilson disease: Novel mutations in the A
Wilson disease: Novel mutations in the ATP7B gene and clinical correlation in Brazilian patients
✍ Marta M. Deguti; Janine Genschel; Eduardo L.R. Cancado; Egberto R. Barbosa; Bett πŸ“‚ Article πŸ“… 2004 πŸ› John Wiley and Sons 🌐 English βš– 225 KB πŸ‘ 1 views

Wilson disease (WD) is a rare inherited autosomal recessive disorder caused by a defect in a metal transporting P-type ATPase, resulting in copper overload in various tissues and cells. The aim was to assess both the phenotype in Brazilian WD patients and the corresponding ATP7B genotype. Sixty subj