Article
Five novel SLC7A7 variants and y+L gene-expression pattern in cultured lymphoblasts from Japanese patients with lysinuric protein intolerance.
Human mutation - 1 Nov 2002
Shoji Yutaka, Noguchi Atsuko, Shoji Yasuko, Matsumori Mika, Takasago Yuhei, Takayanagi Masaki, Yoshida Yoshihiro, Ihara Kenji, Hara Toshiro, Yamaguchi Shuichi, Yoshino Makoto, Kaji Masayuki, Yamamoto Shigenori, Nakai Akio, Koizumi Akio, Hokezu Youichi, Nagamatsu Keiji, Mikami Hitoshi, Kitajima Isao, Takada Goro
Abstract excerpt
Two distinct human light subunits of the heteromeric amino acid transporter, y+LAT-1 coded by SLC7A7 and y+LAT-2 coded by SLC7A6, are both known to induce transport system y+L activity. SLC7A7 has already been identified as the gene responsible for lysinuric protein intolerance (LPI). We successfully identified five novel SLC7A7 variants (S238F, S489P, 1630delC, 1673delG, and IVS3-IVS5del9.7kb) in Japanese...
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