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Wilson disease mutations associated with uncommon haplotypes in mediterranean patients

✍ Scribed by G. Loudianos; Valeria Dessì; Andrea Angius; Mario Lovicu; Angela Loi; Manila Deiana; Nejat Akar; Pietro Vajro; Annalena Figus; Antonio Cao; Mario Pirastu


Book ID
106136494
Publisher
Springer
Year
1996
Tongue
English
Weight
22 KB
Volume
98
Category
Article
ISSN
0340-6717

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Haplotype and mutation analysis in Medit
✍ Georgios Loudianos; Valeria Dessi; Mario Lovicu; Andrea Angius; Mario Pirastu; A 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 101 KB 👁 1 views

Wilson disease is an autosomal recessive disorder of copper transport resulting from the defective function of a copper transporting P-type ATPasi (ATP7B). We have carried out mutational analysis in 295 patients of Mediterranean origin with Wilson Disease, including 85 Sardinians, 120 Continental It