GLA c.493G>C ;(p.D165H)

Variant ID: X-100656674-C-G

NM_000169.2(GLA):c.493G>C;(p.D165H)

This variant was identified in 10 publications

View GRCh38 version.




Publications:


Fabry's Disease: The Utility of a Multidisciplinary Screening Approach.

Life (Basel, Switzerland)
Monte, Marco Angelo MA; Veroux, Massimiliano M; Rodolico, Margherita Stefania MS; Losi, Valentina V; Di Pino, Luigi L; Bella, Rita R; Lanza, Giuseppe G; Monte, Ines Paola IP
Publication Date: 2022-04-22

Variant appearance in text: GLA: D165H
PubMed Link: 35629291
Variant Present in the following documents:
  • Main text
  • life-12-00623.pdf
View BVdb publication page



Screening for Fabry Disease in Kidney Transplant Recipients: Experience of a Multidisciplinary Team.

Biomedicines
Veroux, Massimiliano M; Monte, Ines P IP; Rodolico, Margherita S MS; Corona, Daniela D; Bella, Rita R; Basile, Antonio A; Palmucci, Stefano S; Pistorio, Maria L ML; Lanza, Giuseppe G; De Pasquale, Concetta C; Veroux, Pierfrancesco P
Publication Date: 2020-10-07

Variant appearance in text: GLA: Asp165His
PubMed Link: 33036343
Variant Present in the following documents:
  • Main text
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: D165H
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: 493G>C; D165H
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: D165H
PubMed Link: 31819097
Variant Present in the following documents:
  • 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page



Mutations in the GLA Gene and LysoGb3: Is It Really Anderson-Fabry Disease?

International Journal Of Molecular Sciences
Duro, Giovanni G; Zizzo, Carmela C; Cammarata, Giuseppe G; Burlina, Alessandro A; Burlina, Alberto A; Polo, Giulia G; Scalia, Simone S; Oliveri, Roberta R; Sciarrino, Serafina S; Francofonte, Daniele D; Alessandro, Riccardo R; Pisani, Antonio A; Palladino, Giuseppe G; Napoletano, Rosa R; Tenuta, Maurizio M; Masarone, Daniele D; Limongelli, Giuseppe G; Riccio, Eleonora E; Frustaci, Andrea A; Chimenti, Cristina C; Ferri, Claudio C; Pieruzzi, Federico F; Pieroni, Maurizio M; Spada, Marco M; Castana, Cinzia C; Caserta, Marina M; Monte, Ines I; Rodolico, Margherita Stefania MS; Feriozzi, Sandro S; Battaglia, Yuri Y; Amico, Luisa L; Losi, Maria Angela MA; Autore, Camillo C; Lombardi, Marco M; Zoccali, Carmine C; Testa, Alessandra A; Postorino, Maurizio M; Mignani, Renzo R; Zachara, Elisabetta E; Giordano, Antonello A; Colomba, Paolo P
Publication Date: 2018-11-23

Variant appearance in text: GLA: D165H
PubMed Link: 30477121
Variant Present in the following documents:
  • Main text
  • ijms-19-03726.pdf
View BVdb publication page



Genotype: A Crucial but Not Unique Factor Affecting the Clinical Phenotypes in Fabry Disease.

Plos One
Pan, Xiaoxia X; Ouyang, Yan Y; Wang, Zhaohui Z; Ren, Hong H; Shen, Pingyan P; Wang, Weiming W; Xu, Yaowen Y; Ni, Liyan L; Yu, Xialian X; Chen, Xiaonong X; Zhang, Wen W; Yang, Li L; Li, Xiao X; Xu, Jing J; Chen, Nan N
Publication Date: 2016

Variant appearance in text: GLA: D165H
PubMed Link: 27560961
Variant Present in the following documents:
  • Main text
  • pone.0161330.pdf
View BVdb publication page



Late diagnosis of Fabry disease caused by a de novo mutation in a patient with end stage renal disease.

Bmc Research Notes
Pisani, Antonio A; Daniele, Aurora A; Di Domenico, Carmela C; Nigro, Ersilia E; Salvatore, Francesco F; Riccio, Eleonora E
Publication Date: 2015-11-24

Variant appearance in text: GLA: 493G>C
PubMed Link: 26602202
Variant Present in the following documents:
  • Main text
  • 13104_2015_Article_1696.pdf
View BVdb publication page



De novo mutation in a male patient with Fabry disease: a case report.

Bmc Research Notes
Iemolo, Francesco F; Pizzo, Federica F; Albeggiani, Giuseppe G; Zizzo, Carmela C; Colomba, Paolo P; Scalia, Simone S; Bartolotta, Caterina C; Duro, Giovanni G
Publication Date: 2014-01-07

Variant appearance in text: GLA: 493G>C; D165H
PubMed Link: 24398019
Variant Present in the following documents:
  • Main text
  • 1756-0500-7-11.pdf
View BVdb publication page



Genetic screening of Fabry patients with EcoTILLING and HRM technology.

Bmc Research Notes
Bono, Caterina C; Nuzzo, Domenico D; Albeggiani, Giuseppe G; Zizzo, Carmela C; Francofonte, Daniele D; Iemolo, Francesco F; Sanzaro, Enzo E; Duro, Giovanni G
Publication Date: 2011-09-06

Variant appearance in text: GLA: D165H
PubMed Link: 21896204
Variant Present in the following documents:
  • Main text
  • 1756-0500-4-323.pdf
View BVdb publication page