GLA c.1078G>A ;(p.G360S)

Variant ID: X-100653009-C-T

NM_000169.2(GLA):c.1078G>A;(p.G360S)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


Identification and functional characterization of the first deep intronic GLA mutation (IVS4+1326C>T) causing renal variant of Fabry disease.

Orphanet Journal Of Rare Diseases
Dai, Xuantong X; Zong, Xue X; Pan, Xiaoxia X; Lu, Wei W; Jiang, Geng-Ru GR; Lin, Fujun F
Publication Date: 2022-06-20

Variant appearance in text: GLA: Gly360Ser
PubMed Link: 35725559
Variant Present in the following documents:
  • Main text
  • 13023_2022_Article_2377.pdf
View BVdb publication page



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: G360S
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: Gly360Ser
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: Gly360Ser
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: Gly360Ser
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: 1078G>A; G360S
PubMed Link: 30386727
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Skin globotriaosylceramide 3 deposits are specific to Fabry disease with classical mutations and associated with small fibre neuropathy.

Plos One
Liguori, Rocco R; Incensi, Alex A; de Pasqua, Silvia S; Mignani, Renzo R; Fileccia, Enrico E; Santostefano, Marisa M; Biagini, Elena E; Rapezzi, Claudio C; Palmieri, Silvia S; Romani, Ilaria I; Borsini, Walter W; Burlina, Alessandro A; Bombardi, Roberto R; Caprini, Marco M; Avoni, Patrizia P; Donadio, Vincenzo V
Publication Date: 2017

Variant appearance in text: GLA: 1078G>A; G360S
PubMed Link: 28672034
Variant Present in the following documents:
  • Main text
  • pone.0180581.pdf
View BVdb publication page