๐”– Bobbio Scriptorium
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The W258X mutation inSLC22A12is the predominant cause of Japanese renal hypouricemia

โœ Scribed by Fusako Komoda; Takashi Sekine; Jun Inatomi; Atsushi Enomoto; Hitoshi Endou; Toshiyuki Ota; Takeshi Matsuyama; Tsutomu Ogata; Masahiro Ikeda; Midori Awazu; Koji Muroya; Isamu Kamimaki; Takashi Igarashi


Book ID
106159459
Publisher
Springer
Year
2004
Tongue
English
Weight
206 KB
Volume
19
Category
Article
ISSN
0931-041X

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By means of PCR-SSCP and direct sequencing, we detected 12 germ-line mutations of hMSH2 or hMLH1 in 37 Japanese hereditary non-polyposis colorectal cancer (HNPCC) kindreds, of whom 15 satisfied the Amsterdam and 22 the Japanese criteria. The germ-line mutation detection rate of hMSH2 was much higher