GLA c.673C>G ;(p.H225D)

Variant ID: X-100653901-G-C

NM_000169.2(GLA):c.673C>G;(p.H225D)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Endothelial Dysfunction in Fabry Disease Is Related to Glycocalyx Degradation.

Frontiers In Immunology
Pollmann, Solvey S; Scharnetzki, David D; Manikowski, Dominique D; Lenders, Malte M; Brand, Eva E
Publication Date: 2021

Variant appearance in text: GLA: H225D
PubMed Link: 34917096
Variant Present in the following documents:
  • Main text
  • fimmu-12-789142.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: H225D
PubMed Link: 32995357
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Assessment of Gene Variant Amenability for Pharmacological Chaperone Therapy with 1-Deoxygalactonojirimycin in Fabry Disease.

International Journal Of Molecular Sciences
Lukas, Jan J; Cimmaruta, Chiara C; Liguori, Ludovica L; Pantoom, Supansa S; Iwanov, Katharina K; Petters, Janine J; Hund, Christina C; Bunschkowski, Maik M; Hermann, Andreas A; Cubellis, Maria Vittoria MV; Rolfs, Arndt A
Publication Date: 2020-01-31

Variant appearance in text: GLA: 673C>G; H225D
PubMed Link: 32023956
Variant Present in the following documents:
  • Main text
  • ijms-21-00956.pdf
View BVdb publication page



Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases.

Scientific Reports
Šimčíková, Daniela D; Heneberg, Petr P
Publication Date: 2019-12-09

Variant appearance in text: GLA: H225D
PubMed Link: 31819097
Variant Present in the following documents:
  • 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page



Functional characterisation of alpha-galactosidase a mutations as a basis for a new classification system in fabry disease.

Plos Genetics
Lukas, Jan J; Giese, Anne-Katrin AK; Markoff, Arseni A; Grittner, Ulrike U; Kolodny, Ed E; Mascher, Hermann H; Lackner, Karl J KJ; Meyer, Wolfgang W; Wree, Phillip P; Saviouk, Viatcheslav V; Rolfs, Arndt A
Publication Date: 2013

Variant appearance in text: GLA: H225D
PubMed Link: 23935525
Variant Present in the following documents:
  • Main text
  • pgen.1003632.pdf
View BVdb publication page