We report five novel VMD2 mutations in Best's macular dystrophy patients (S16F, I73N, R92H, V235L, and N296S). An SSCP analysis of the VMD2 11 exons revealed electrophoretic mobility shifts exclusively in exons 2, 3, 4, 6 and 8. Direct sequencing indicated that these shifts are caused by mono-alleli
Identification of Two Novel Mutations in Adenine Phosphoribosyltransferase Gene in Patients with 2,8-Dihydroxyadenine Urolithiasis
β Scribed by Atsuo Taniguchi; Sanae Tsuchida; Shin-Ichi Kuno; Masayuki Mita; Tastuya Machida; Naomasa Ioritani; Chihiro Terai; Hisashi Yamanaka; Naoyuki Kamatani
- Publisher
- John Wiley and Sons
- Year
- 2005
- Weight
- 8 KB
- Volume
- 36
- Category
- Article
- ISSN
- 0931-7597
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