GAA c.341_342insT ;(p.K114Nfs*32)

Variant ID: 17-78078726-A-AT

NM_000152.3(GAA):c.341_342insT;(p.K114Nfs*32)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Immunological challenges and approaches to immunomodulation in Pompe disease: a literature review.

Annals Of Translational Medicine
Desai, Ankit K AK; Li, Cindy C; Rosenberg, Amy S AS; Kishnani, Priya S PS
Publication Date: 2019-07

Variant appearance in text: GAA: 341insT
PubMed Link: 31392197
Variant Present in the following documents:
  • Main text
View BVdb publication page



Successful immune tolerance induction to enzyme replacement therapy in CRIM-negative infantile Pompe disease.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Messinger, Yoav H YH; Mendelsohn, Nancy J NJ; Rhead, William W; Dimmock, David D; Hershkovitz, Eli E; Champion, Michael M; Jones, Simon A SA; Olson, Rebecca R; White, Amy A; Wells, Cara C; Bali, Deeksha D; Case, Laura E LE; Young, Sarah P SP; Rosenberg, Amy S AS; Kishnani, Priya S PS
Publication Date: 2012-01

Variant appearance in text: GAA: 341insT
PubMed Link: 22237443
Variant Present in the following documents:
  • Main text
View BVdb publication page



Cross-reactive immunologic material status affects treatment outcomes in Pompe disease infants.

Molecular Genetics And Metabolism
Kishnani, Priya S PS; Goldenberg, Paula C PC; DeArmey, Stephanie L SL; Heller, James J; Benjamin, Danny D; Young, Sarah S; Bali, Deeksha D; Smith, Sue Ann SA; Li, Jennifer S JS; Mandel, Hanna H; Koeberl, Dwight D; Rosenberg, Amy A; Chen, Y-T YT
Publication Date: 2010-01

Variant appearance in text: N/A
PubMed Link: 19775921
Variant Present in the following documents:
View BVdb publication page