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Spectrum of mutations in the Wilson disease gene (ATP7B) in the Bulgarian population

✍ Scribed by T Todorov; A Savov; H Jelev; E Panteleeva; D Konstantinova; Z Krustev; V Mihaylova; I Tournev; L Tankova; N Tzolova; I Kremensky


Book ID
110888094
Publisher
John Wiley and Sons
Year
2005
Tongue
English
Weight
67 KB
Volume
68
Category
Article
ISSN
0009-9163

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Wilson disease: Novel mutations in the A
✍ 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