GAA c.1532C>A ;(p.P511H)

Variant ID: 17-78084620-C-A

NM_000152.3(GAA):c.1532C>A;(p.P511H)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Quantitative muscle MRI to follow up late onset Pompe patients: a prospective study.

Scientific Reports
Figueroa-Bonaparte, Sebastian S; Llauger, Jaume J; Segovia, Sonia S; Belmonte, Izaskun I; Pedrosa, Irene I; Montiel, Elena E; Montesinos, Paula P; Sánchez-González, Javier J; Alonso-Jiménez, Alicia A; Gallardo, Eduard E; Illa, Isabel I; , ; Díaz-Manera, Jordi J
Publication Date: 2018-07-18

Variant appearance in text: GAA: 1532C>A
PubMed Link: 30022036
Variant Present in the following documents:
  • Main text
  • 41598_2018_Article_29170.pdf
View BVdb publication page



Muscle MRI Findings in Childhood/Adult Onset Pompe Disease Correlate with Muscle Function.

Plos One
Figueroa-Bonaparte, Sebastián S; Segovia, Sonia S; Llauger, Jaume J; Belmonte, Izaskun I; Pedrosa, Irene I; Alejaldre, Aída A; Mayos, Mercè M; Suárez-Cuartín, Guillermo G; Gallardo, Eduard E; Illa, Isabel I; Díaz-Manera, Jordi J; ,
Publication Date: 2016

Variant appearance in text: GAA: 1532C>A
PubMed Link: 27711114
Variant Present in the following documents:
  • Main text
  • pone.0163493.pdf
View BVdb publication page