GLA c.233C>G ;(p.S78*)

Variant ID: X-100658935-G-C

NM_000169.2(GLA):c.233C>G;(p.S78*)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Elevated Ambulatory Blood Pressure Measurements are Associated with a Progressive Form of Fabry Disease.

High Blood Pressure & Cardiovascular Prevention : The Official Journal Of The Italian Society Of Hypertension
Rossi, Federica F; Svarstad, Einar E; Elsaid, Hassan H; Binaggia, Agnese A; Roggero, Letizia L; Auricchio, Sara S; Marti, Hans-Peter HP; Pieruzzi, Federico F
Publication Date: 2021-05

Variant appearance in text: GLA: 233C>G; Ser78Ter
PubMed Link: 33844184
Variant Present in the following documents:
  • Main text
  • 40292_2021_Article_450.pdf
View BVdb publication page



Cornea verticillata and acroparesthesia efficiently discriminate clusters of severity in Fabry disease.

Plos One
Mauhin, Wladimir W; Benveniste, Olivier O; Amelin, Damien D; Montagner, Clémence C; Lamari, Foudil F; Caillaud, Catherine C; Douillard, Claire C; Dussol, Bertrand B; Leguy-Seguin, Vanessa V; D'Halluin, Pauline P; Noel, Esther E; Zenone, Thierry T; Matignon, Marie M; Maillot, François F; Ly, Kim-Heang KH; Besson, Gérard G; Willems, Marjolaine M; Labombarda, Fabien F; Masseau, Agathe A; Lavigne, Christian C; Lacombe, Didier D; Maillard, Hélène H; Lidove, Olivier O
Publication Date: 2020

Variant appearance in text: GLA: 233C>G
PubMed Link: 32442237
Variant Present in the following documents:
  • Main text
  • pone.0233460.pdf
View BVdb publication page



Deep characterization of the anti-drug antibodies developed in Fabry disease patients, a prospective analysis from the French multicenter cohort FFABRY.

Orphanet Journal Of Rare Diseases
Mauhin, Wladimir W; Lidove, Olivier O; Amelin, Damien D; Lamari, Foudil F; Caillaud, Catherine C; Mingozzi, Federico F; Dzangué-Tchoupou, Gaëlle G; Arouche-Delaperche, Louiza L; Douillard, Claire C; Dussol, Bertrand B; Leguy-Seguin, Vanessa V; D'Halluin, Pauline P; Noel, Esther E; Zenone, Thierry T; Matignon, Marie M; Maillot, François F; Ly, Kim-Heang KH; Besson, Gérard G; Willems, Marjolaine M; Labombarda, Fabien F; Masseau, Agathe A; Lavigne, Christian C; Froissart, Roseline R; Lacombe, Didier D; Ziza, Jean Marc JM; Hachulla, Eric E; Benveniste, Olivier O
Publication Date: 2018-07-31

Variant appearance in text: GLA: 233C>G; Ser78*
PubMed Link: 30064518
Variant Present in the following documents:
  • Main text
  • 13023_2018_Article_877.pdf
View BVdb publication page



Ten-year outcome of enzyme replacement therapy with agalsidase beta in patients with Fabry disease.

Journal Of Medical Genetics
Germain, Dominique P DP; Charrow, Joel J; Desnick, Robert J RJ; Guffon, Nathalie N; Kempf, Judy J; Lachmann, Robin H RH; Lemay, Roberta R; Linthorst, Gabor E GE; Packman, Seymour S; Scott, C Ronald CR; Waldek, Stephen S; Warnock, David G DG; Weinreb, Neal J NJ; Wilcox, William R WR
Publication Date: 2015-05

Variant appearance in text: GLA: Ser78*
PubMed Link: 25795794
Variant Present in the following documents:
  • jmedgenet-2014-102797-s1.pdf
View BVdb publication page