568 Mutation analysis in Turkish patients with Wilson disease
β Scribed by C. Yurdaydin; K. Demir; H. Bozkaya; A. Oktem; E.S. Koytak; M.A. Bozdayi; O. Uzunalimoglu; C. Polli; P. Ferenci
- Book ID
- 117373396
- Publisher
- Elsevier Science
- Year
- 2004
- Tongue
- English
- Weight
- 79 KB
- Volume
- 40
- Category
- Article
- ISSN
- 0168-8278
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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
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