GLA c.56T>C ;(p.L19P)

Variant ID: X-100662836-A-G

NM_000169.2(GLA):c.56T>C;(p.L19P)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Fabry nephropathy before and after enzyme replacement therapy: important role of renal biopsy in patients with Fabry disease.

Kidney Research And Clinical Practice
Kim, Il Young IY; Lee, Hyun Jung HJ; Cheon, Chong Kun CK
Publication Date: 2021-12

Variant appearance in text: GLA: 56T>C
PubMed Link: 34922431
Variant Present in the following documents:
  • j-krcp-21-056.pdf
View BVdb publication page



Fabry nephropathy before and after enzyme replacement therapy: important role of renal biopsy in patients with Fabry disease.

Kidney Research And Clinical Practice
Kim, Il Young IY; Lee, Hyun Jung HJ; Cheon, Chong Kun CK
Publication Date: 2021-12

Variant appearance in text: GLA: 56T>C
PubMed Link: 34922431
Variant Present in the following documents:
  • j-krcp-21-056.pdf
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: L19P
PubMed Link: 30477121
Variant Present in the following documents:
  • Main text
  • ijms-19-03726.pdf
View BVdb publication page



Long-Term Dose-Dependent Agalsidase Effects on Kidney Histology in Fabry Disease.

Clinical Journal Of The American Society Of Nephrology : Cjasn
Skrunes, Rannveig R; Tøndel, Camilla C; Leh, Sabine S; Larsen, Kristin Kampevold KK; Houge, Gunnar G; Davidsen, Einar Skulstad ES; Hollak, Carla C; van Kuilenburg, André B P ABP; Vaz, Frédéric M FM; Svarstad, Einar E
Publication Date: 2017-09-07

Variant appearance in text: GLA: 56T>C
PubMed Link: 28625968
Variant Present in the following documents:
  • Main text
View BVdb publication page