GLA c.1243C>T ;(p.L415F)

Variant ID: X-100652844-G-A

NM_000169.2(GLA):c.1243C>T;(p.L415F)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


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: L415F
PubMed Link: 34679477
Variant Present in the following documents:
  • Main text
  • diagnostics-11-01779.pdf
View BVdb publication page



Plasma Globotriaosylsphingosine and α-Galactosidase A Activity as a Combined Screening Biomarker for Fabry Disease in a Large Japanese Cohort.

Current Issues In Molecular Biology
Maruyama, Hiroki H; Taguchi, Atsumi A; Mikame, Mariko M; Izawa, Atsushi A; Morito, Naoki N; Izaki, Kazufumi K; Seto, Toshiyuki T; Onishi, Akifumi A; Sugiyama, Hitoshi H; Sakai, Norio N; Yamabe, Kenji K; Yokoyama, Yukio Y; Yamashita, Satoshi S; Satoh, Hiroshi H; Toyoda, Shigeru S; Hosojima, Michihiro M; Ito, Yumi Y; Tazawa, Ryushi R; Ishii, Satoshi S
Publication Date: 2021-06-19

Variant appearance in text: GLA: Leu415Phe
PubMed Link: 34205365
Variant Present in the following documents:
  • Main text
  • cimb-43-00032.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: 1243C>T; L415F
PubMed Link: 32023956
Variant Present in the following documents:
  • Main text
  • ijms-21-00956.pdf
View BVdb publication page



Exploratory screening for Fabry's disease in young adults with cerebrovascular disorders in northern Sardinia.

Bmc Neurology
Fancellu, Laura L; Borsini, Walter W; Romani, Ilaria I; Pirisi, Angelo A; Deiana, Giovanni Andrea GA; Sechi, Elia E; Doneddu, Pietro Emiliano PE; Rassu, Anna Laura AL; Demurtas, Rita R; Scarabotto, Anna A; Cassini, Pamela P; Arbustini, Eloisa E; Sechi, GianPietro G
Publication Date: 2015-12-12

Variant appearance in text: GLA: L415F
PubMed Link: 26652600
Variant Present in the following documents:
  • Main text
  • 12883_2015_Article_513.pdf
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: L415F
PubMed Link: 23935525
Variant Present in the following documents:
  • Main text
  • pgen.1003632.pdf
View BVdb publication page