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Mutation analysis of theTSC1andTSC2genes in Japanese patients with pulmonary lymphangioleiomyomatosis

โœ Scribed by T. Sato; K. Seyama; H. Fujii; H. Maruyama; Y. Setoguchi; S. Iwakami; Y. Fukuchi; O. Hino

Book ID
106251657
Publisher
Nature Publishing Group
Year
2002
Tongue
English
Weight
135 KB
Volume
47
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