GLA c.1133G>T ;(p.C378F)

Variant ID: X-100652954-C-A

NM_000169.2(GLA):c.1133G>T;(p.C378F)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Plasma Globotriaosylsphingosine and α-Galactosidase A Activity as a Combined Screening Biomarker for Fabry Disease in a Large Japanese Cohort.

Current Issues In Molecular Biology
Maruyama, Hiroki H; Taguchi, Atsumi A; Mikame, Mariko M; Izawa, Atsushi A; Morito, Naoki N; Izaki, Kazufumi K; Seto, Toshiyuki T; Onishi, Akifumi A; Sugiyama, Hitoshi H; Sakai, Norio N; Yamabe, Kenji K; Yokoyama, Yukio Y; Yamashita, Satoshi S; Satoh, Hiroshi H; Toyoda, Shigeru S; Hosojima, Michihiro M; Ito, Yumi Y; Tazawa, Ryushi R; Ishii, Satoshi S
Publication Date: 2021-06-19

Variant appearance in text: GLA: 1133G>T; Cys378Phe
PubMed Link: 34205365
Variant Present in the following documents:
  • Main text
  • cimb-43-00032.pdf
View BVdb publication page



Anti-drug antibody formation in Japanese Fabry patients following enzyme replacement therapy.

Molecular Genetics And Metabolism Reports
Tsukimura, Takahiro T; Tayama, Yuya Y; Shiga, Tomoko T; Hirai, Kanako K; Togawa, Tadayasu T; Sakuraba, Hitoshi H
Publication Date: 2020-12

Variant appearance in text: GLA: C378F
PubMed Link: 33072516
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Fabry disease in a Japanese population-molecular and biochemical characteristics.

Molecular Genetics And Metabolism Reports
Sakuraba, Hitoshi H; Tsukimura, Takahiro T; Togawa, Tadayasu T; Tanaka, Toshie T; Ohtsuka, Tomoko T; Sato, Atsuko A; Shiga, Tomoko T; Saito, Seiji S; Ohno, Kazuki K
Publication Date: 2018-12

Variant appearance in text: GLA: 1133G>T; C378F
PubMed Link: 30386727
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page