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Mutational analysis ofTSC1andTSC2genes in Japanese patients with tuberous sclerosis complex

โœ Scribed by H. Zhang; E. Nanba; T. Yamamoto; H. Ninomiya; K. Ohno; M. Mizuguchi; K. Takeshita

Book ID
106252562
Publisher
Nature Publishing Group
Year
1999
Tongue
English
Weight
238 KB
Volume
44
Category
Article
ISSN
1435-232X

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โœ Yamashita, Yokihiko; Ono, Jiro; Okada, Shintaro; Wataya-Kaneda, Mari; Yoshikawa, ๐Ÿ“‚ Article ๐Ÿ“… 2000 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 17 KB ๐Ÿ‘ 2 views

Twenty-seven Japanese patients with the tuberous sclerosis complex (TSC), consisting of 23 sporadic and 4 familial cases, were tested for mutations in the TSC1 and TSC2 genes, using single-strand conformational polymorphism analysis and direct sequencing. Four possible pathogenic mutations were foun