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Note: Identification of Three Novel Insertion/Deletion Mutations in Wilson Disease's Gene

✍ Scribed by Yuxin Fan; Long Yu; Yongzhu Han; Mingshan Ren; Renmin Yang; Shouyuan Zhao


Book ID
111573329
Publisher
Springer
Year
2004
Tongue
English
Weight
288 KB
Volume
42
Category
Article
ISSN
0006-2928

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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