𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Detection of novel mutations in the wilson disease gene using direct sequence analysis

✍ Scribed by C.A. Büttner; J. Genschel; P. Baier; M.J. Pröpsting; M.P. Manns; H. Lochs; H.H.-J. Schmidt


Book ID
119526179
Publisher
Elsevier Science
Year
2000
Tongue
English
Weight
120 KB
Volume
32
Category
Article
ISSN
0168-8278

No coin nor oath required. For personal study only.


📜 SIMILAR VOLUMES


Mutation analysis in patients with Wilso
✍ Regina Haas; Bertha Gutierrez-Rivero; Judith Knoche; Klaus Böker; Michael P. Man 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 21 KB 👁 2 views

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