GLA c.359T>C ;(p.L120P)

Variant ID: X-100658809-A-G

NM_000169.2(GLA):c.359T>C;(p.L120P)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


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: L120P
PubMed Link: 31819097
Variant Present in the following documents:
  • 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8
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: L120P
PubMed Link: 26083343
Variant Present in the following documents:
  • Main text
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: Leu120Pro
PubMed Link: 25795794
Variant Present in the following documents:
  • jmedgenet-2014-102797-s1.pdf
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A pharmacogenetic approach to identify mutant forms of α-galactosidase A that respond to a pharmacological chaperone for Fabry disease.

Human Mutation
Wu, Xiaoyang X; Katz, Evan E; Della Valle, Maria Cecilia MC; Mascioli, Kirsten K; Flanagan, John J JJ; Castelli, Jeffrey P JP; Schiffmann, Raphael R; Boudes, Pol P; Lockhart, David J DJ; Valenzano, Kenneth J KJ; Benjamin, Elfrida R ER
Publication Date: 2011-08

Variant appearance in text: GLA: 359T>C; L120P
PubMed Link: 21598360
Variant Present in the following documents:
  • Main text
  • humu0032-0965.pdf
View BVdb publication page



Structure-function relationships in alpha-galactosidase A.

Acta Paediatrica (Oslo, Norway : 1992)
Garman, Scott C SC
Publication Date: 2007-04

Variant appearance in text: GLA: L120P
PubMed Link: 17391432
Variant Present in the following documents:
  • Main text
View BVdb publication page