| Autor: |
Kobayashi, Hiromasa, Hino, Megumu, Shimodahira, Makiko, Iwakura, Toshio, Ishihara, Takashi, Ikekubo, Katsuji, Ogawa, Yoshihiro, Nakao, Kazuwa, Kurahachi, Hiroyuki |
| Zdroj: |
American Journal of Medical Genetics. Part A; 1 January 2002, Vol. 107 Issue: 1 p26-29, 4p |
| Abstrakt: |
We report a new Japanese family with tricho-rhino-phalangeal syndrome type III (TRPS III) who have a missense mutation (Arg908Gln) of theTRPS1 gene (TRPS1) in affected individuals of the family. This study supports the notion that TRPS III results from missense mutations in exon 6 of TRPS1. © 2001 Wiley-Liss, Inc. |
| Databáze: |
Supplemental Index |
| Externí odkaz: |
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