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Identification and characterization of splice variants of the human P2X7 ATP channel

✍ Scribed by Boonlert Cheewatrakoolpong; Helen Gilchrest; John C. Anthes; Scott Greenfeder

Book ID
116290520
Publisher
Elsevier Science
Year
2005
Tongue
English
Weight
621 KB
Volume
332
Category
Article
ISSN
0006-291X

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Wilson disease is a copper metabolism disorder caused by mutations in ATP7B, a coppertransporting adenosine triphosphatase. A molecular diagnosis was performed on 135 patients with Wilson disease in Taiwan. We identified 36 different mutations, eight of which were novel: five missense mutations (Ser