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Characterization of the Molecular Defect in the ATP7B Gene in Wilson Disease Patients from Yugoslavia

✍ Scribed by Loudianos, Georgios; Kostic, Vladimir; Solinas, Paola; Lovicu, Mario; Dessì, Valeria; Svetel, Marina; Major, Tamara; Cao, Antonio


Book ID
127052084
Publisher
Mary Ann Liebert
Year
2003
Tongue
English
Weight
117 KB
Volume
7
Category
Article
ISSN
1090-6576

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Wilson disease: Novel mutations in the A
✍ Marta M. Deguti; Janine Genschel; Eduardo L.R. Cancado; Egberto R. Barbosa; Bett 📂 Article 📅 2004 🏛 John Wiley and Sons 🌐 English ⚖ 225 KB 👁 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