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GLA c.1095T>G ;(p.Y365*)
Variant ID: X-100652992-A-C
NM_000169.2(
GLA
):c.1095T>G;(p.Y365*)
This variant was identified in 7 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
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: Tyr365X
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: Tyr365X
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: Tyr365X
PubMed Link:
34282462
Variant Present in the following documents:
gfaa324.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: 1095T>G; Y365X
PubMed Link:
30386727
Variant Present in the following documents:
Main text
main.pdf
View BVdb publication page
Rapid Immunochromatographic Detection of Serum Anti-α-Galactosidase A Antibodies in Fabry Patients after Enzyme Replacement Therapy.
Plos One
Nakano, Sachie S; Tsukimura, Takahiro T; Togawa, Tadayasu T; Ohashi, Toya T; Kobayashi, Masahisa M; Takayama, Katsuyoshi K; Kobayashi, Yukuharu Y; Abiko, Hiroshi H; Satou, Masatsugu M; Nakahata, Tohru T; Warnock, David G DG; Sakuraba, Hitoshi H; Shibasaki, Futoshi F
Publication Date: 2015
Variant appearance in text: GLA: Y365X
PubMed Link:
26083343
Variant Present in the following documents:
Main text
View BVdb publication page
Nano-LC-MS/MS for Quantification of Lyso-Gb3 and Its Analogues Reveals a Useful Biomarker for Fabry Disease.
Plos One
Sueoka, Hideaki H; Ichihara, Junji J; Tsukimura, Takahiro T; Togawa, Tadayasu T; Sakuraba, Hitoshi H
Publication Date: 2015
Variant appearance in text: GLA: Y365X
PubMed Link:
25965380
Variant Present in the following documents:
Main text
pone.0127048.pdf
View BVdb publication page
Cognitive and psychological functioning in Fabry disease.
Archives Of Clinical Neuropsychology : The Official Journal Of The National Academy Of Neuropsychologists
Sigmundsdottir, Linda L; Tchan, Michel C MC; Knopman, Alex A AA; Menzies, Graham C GC; Batchelor, Jennifer J; Sillence, David O DO
Publication Date: 2014-11
Variant appearance in text: GLA: Y365X
PubMed Link:
25319043
Variant Present in the following documents:
Main text
View BVdb publication page
Homocysteine and erythrocyte sedimentation rate correlate with cerebrovascular disease in fabry disease.
Jimd Reports
Cheung, R R; Sillence, D O DO; Tchan, M C MC
Publication Date: 2012
Variant appearance in text: GLA: Y365X
PubMed Link:
23430946
Variant Present in the following documents:
Main text
View BVdb publication page