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GLA c.628C>T ;(p.P210S)
Variant ID: X-100655665-G-A
NM_000169.2(
GLA
):c.628C>T;(p.P210S)
This variant was identified in 9 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
High-Risk Screening for Fabry Disease: A Nationwide Study in Japan and Literature Review.
Diagnostics (Basel, Switzerland)
Sawada, Takaaki T; Kido, Jun J; Sugawara, Keishin K; Nakamura, Kimitoshi K
Publication Date: 2021-09-27
Variant appearance in text: GLA: P210S
PubMed Link:
34679477
Variant Present in the following documents:
Main text
diagnostics-11-01779.pdf
View BVdb publication page
Erratum to: Screening of Fabry disease in patients with chronic kidney disease in Japan.
Nephrology, Dialysis, Transplantation : Official Publication Of The European Dialysis And Transplant Association - European Renal Association
Nagata, Akiko A; Nasu, Makoto M; Kaida, Yusuke Y; Nakayama, Yosuke Y; Kurokawa, Yuka Y; Nakamura, Nao N; Shibata, Ryo R; Hazama, Takuma T; Tsukimura, Takahiro T; Togawa, Tadayasu T; Saito, Seiji S; Sakuraba, Hitoshi H; Fukami, Kei K
Publication Date: 2021-11-09
Variant appearance in text: GLA: Pro210Ser
PubMed Link:
34535801
Variant Present in the following documents:
Main text
gfab234.pdf
View BVdb publication page
Screening of Fabry disease in patients with chronic kidney disease in Japan.
Nephrology, Dialysis, Transplantation : Official Publication Of The European Dialysis And Transplant Association - European Renal Association
Nagata, Akiko A; Nasu, Makoto M; Kaida, Yusuke Y; Nakayama, Yosuke Y; Kurokawa, Yuka Y; Nakamura, Nao N; Shibata, Ryo R; Hazama, Takuma T; Tsukimura, Takahiro T; Togawa, Tadayasu T; Saito, Seiji S; Sakuraba, Hitoshi H; Fukami, Kei K
Publication Date: 2021-07-19
Variant appearance in text: GLA: Pro210Ser
PubMed Link:
34282462
Variant Present in the following documents:
gfaa324.pdf
View BVdb publication page
Screening of Fabry disease in patients with chronic kidney disease in Japan.
Nephrology, Dialysis, Transplantation : Official Publication Of The European Dialysis And Transplant Association - European Renal Association
Nagata, Akiko A; Nasu, Makoto M; Kaida, Yusuke Y; Nakayama, Yosuke Y; Kurokawa, Yuka Y; Nakamura, Nao N; Shibata, Ryo R; Hazama, Takuma T; Tsukimura, Takahiro T; Togawa, Tadayasu T; Saito, Seiji S; Sakuraba, Hitoshi H; Fukami, Kei K
Publication Date: 2021-12-31
Variant appearance in text: GLA: Pro210Ser
PubMed Link:
34282462
Variant Present in the following documents:
gfaa324.pdf
View BVdb publication page
Deficiency in the Screening Process of Fabry Disease: Analysis of Chronic Kidney Patients Not on Dialysis.
Frontiers In Medicine
Battaglia, Yuri Y; Fiorini, Fulvio F; Azzini, Cristiano C; Esposito, Pasquale P; De Vito, Alessandro A; Granata, Antonio A; Storari, Alda A; Mignani, Renzo R
Publication Date: 2021
Variant appearance in text: GLA: P210S
PubMed Link:
33634157
Variant Present in the following documents:
Main text
fmed-08-640876.pdf
View BVdb publication page
In Vitro and In Vivo Amenability to Migalastat in Fabry Disease.
Molecular Therapy. Methods & Clinical Development
Lenders, Malte M; Stappers, Franciska F; Brand, Eva E
Publication Date: 2020-12-11
Variant appearance in text: GLA: P210S
PubMed Link:
32995357
Variant Present in the following documents:
Main text
main.pdf
View BVdb publication page
Newborn screening for Fabry disease in the western region of Japan.
Molecular Genetics And Metabolism Reports
Sawada, Takaaki T; Kido, Jun J; Yoshida, Shinichiro S; Sugawara, Keishin K; Momosaki, Ken K; Inoue, Takahito T; Tajima, Go G; Sawada, Hirotake H; Mastumoto, Shirou S; Endo, Fumio F; Hirose, Shinichi S; Nakamura, Kimitoshi K
Publication Date: 2020-03
Variant appearance in text: GLA: P210S
PubMed Link:
31956509
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: 628C>T; P210S
PubMed Link:
30386727
Variant Present in the following documents:
Main text
main.pdf
View BVdb publication page
Plasma mutant α-galactosidase A protein and globotriaosylsphingosine level in Fabry disease.
Molecular Genetics And Metabolism Reports
Tsukimura, Takahiro T; Nakano, Sachie S; Togawa, Tadayasu T; Tanaka, Toshie T; Saito, Seiji S; Ohno, Kazuki K; Shibasaki, Futoshi F; Sakuraba, Hitoshi H
Publication Date: 2014
Variant appearance in text: GLA: P210S
PubMed Link:
27896103
Variant Present in the following documents:
Main text
main.pdf
View BVdb publication page
Comparative study of structural changes caused by different substitutions at the same residue on α-galactosidase A.
Plos One
Saito, Seiji S; Ohno, Kazuki K; Sakuraba, Hitoshi H
Publication Date: 2013
Variant appearance in text: GLA: P210S
PubMed Link:
24386359
Variant Present in the following documents:
Main text
pone.0084267.pdf
View BVdb publication page