| Article ID | Journal | Published Year | Pages | File Type |
|---|---|---|---|---|
| 10833554 | Molecular Genetics and Metabolism | 2012 | 4 Pages |
Abstract
⺠Fabry patients showing no increase in the plasma Lyso-Gb3 level were found. ⺠This subset exhibited the clinical phenotype of later-onset Fabry disease. ⺠Gene analysis revealed that the patients harbored the M296I mutation. ⺠This amino acid substitution is predicted to cause a small conformational change.
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Authors
Sayuri Mitobe, Tadayasu Togawa, Takahiro Tsukimura, Takashi Kodama, Toshie Tanaka, Kent Doi, Eisei Noiri, Yasuhiro Akai, Yoshihiko Saito, Makoto Yoshino, Toshihiro Takenaka, Seiji Saito, Kazuki Ohno, Hitoshi Sakuraba,