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Mutation screening for Japanese Lafora's disease patients: identification of novel sequence variants in the coding and upstream regulatory regions of EPM2A gene

✍ Scribed by S. Ganesh; K. Shoda; K. Amano; A. Uchiyama; S. Kumada; N. Moriyama; S. Hirose; K. Yamakawa


Book ID
115638441
Publisher
Elsevier Science
Year
2001
Tongue
English
Weight
265 KB
Volume
15
Category
Article
ISSN
0890-8508

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To elucidate if genetic variants in the bradykinin B2 receptor (B2) gene occur that could affect receptor expression and function, we screened for mutations in the promoter and in the coding region of the human B2 gene. In our initial study we analyzed 92 consecutive, unrelated subjects (including 2