GLA c.831G>A ;(p.W277*)

Variant ID: X-100653526-C-T

NM_000169.2(GLA):c.831G>A;(p.W277*)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Demographic and Clinical Characteristics of the Full 2015-2018 Cohort of Romanian Fabry Disease Patients.

Current Health Sciences Journal
Militaru, S S; Adam, R R; Ismail, G G; Rusu, E E; Dulămea, A A; Jurcut, R R
Publication Date: 2019

Variant appearance in text: GLA: W277*
PubMed Link: 32042454
Variant Present in the following documents:
  • Main text
  • CHSJ-45-3-272.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: W277X
PubMed Link: 26083343
Variant Present in the following documents:
  • Main text
  • pone.0128351.pdf
View BVdb publication page