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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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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