GAA c.2646+2_2646+3del

Variant ID: 17-78092155-ATG-A

NM_000152.3(GAA):c.2646+2_2646+3del

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Deferoxamine mesylate improves splicing and GAA activity of the common c.-32-13T>G allele in late-onset PD patient fibroblasts.

Molecular Therapy. Methods & Clinical Development
Buratti, Emanuele E; Peruzzo, Paolo P; Braga, Luca L; Zanin, Irene I; Stuani, Cristiana C; Goina, Elisa E; Romano, Maurizio M; Giacca, Mauro M; Dardis, Andrea A
Publication Date: 2021-03-12

Variant appearance in text: GAA: 2646_2646+1del
PubMed Link: 33426149
Variant Present in the following documents:
  • Main text
  • mmc4.pdf
  • main.pdf
View BVdb publication page



Glycogen Reduction in Myotubes of Late-Onset Pompe Disease Patients Using Antisense Technology.

Molecular Therapy : The Journal Of The American Society Of Gene Therapy
Goina, Elisa E; Peruzzo, Paolo P; Bembi, Bruno B; Dardis, Andrea A; Buratti, Emanuele E
Publication Date: 2017-09-06

Variant appearance in text: GAA: 2646_2646+1del
PubMed Link: 28629821
Variant Present in the following documents:
  • Main text
  • mmc1.pdf
  • mmc2.pdf
  • main.pdf
View BVdb publication page



The missing puzzle piece: splicing mutations.

International Journal Of Clinical And Experimental Pathology
Lewandowska, Marzena A MA
Publication Date: 2013

Variant appearance in text: GAA: 2646_2646+1del
PubMed Link: 24294354
Variant Present in the following documents:
  • Main text
View BVdb publication page



Splicing mutations in glycogen-storage disease type II: evaluation of the full spectrum of mutations and their relation to patients' phenotypes.

European Journal Of Human Genetics : Ejhg
Zampieri, Stefania S; Buratti, Emanuele E; Dominissini, Silvia S; Montalvo, Anna Lisa AL; Pittis, Maria Gabriela MG; Bembi, Bruno B; Dardis, Andrea A
Publication Date: 2011-04

Variant appearance in text: GAA: 2646_2646+1del
PubMed Link: 21179066
Variant Present in the following documents:
  • Main text
View BVdb publication page