GAA c.1075G>T ;(p.G359*)

Variant ID: 17-78082208-G-T

NM_000152.3(GAA):c.1075G>T;(p.G359*)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Sensitivity of whole exome sequencing in detecting infantile- and late-onset Pompe disease.

Molecular Genetics And Metabolism
Mori, Mari M; Haskell, Gloria G; Kazi, Zoheb Z; Zhu, Xiaolin X; DeArmey, Stephanie M SM; Goldstein, Jennifer L JL; Bali, Deeksha D; Rehder, Catherine C; Cirulli, Elizabeth T ET; Kishnani, Priya S PS
Publication Date: 2017-12

Variant appearance in text: GAA: 1075G>T; Gly359*
PubMed Link: 29122469
Variant Present in the following documents:
  • Main text
View BVdb publication page



CRIM-negative infantile Pompe disease: characterization of immune responses in patients treated with ERT monotherapy.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Berrier, Kathryn L KL; Kazi, Zoheb B ZB; Prater, Sean N SN; Bali, Deeksha S DS; Goldstein, Jennifer J; Stefanescu, Mihaela C MC; Rehder, Catherine W CW; Botha, Eleanor G EG; Ellaway, Carolyn C; Bhattacharya, Kaustuv K; Tylki-Szymanska, Anna A; Karabul, Nesrin N; Rosenberg, Amy S AS; Kishnani, Priya S PS
Publication Date: 2015-11

Variant appearance in text: GAA: 1075G>T; Gly359X
PubMed Link: 25741864
Variant Present in the following documents:
  • Main text
  • nihms654429.pdf
View BVdb publication page



Predicting cross-reactive immunological material (CRIM) status in Pompe disease using GAA mutations: lessons learned from 10 years of clinical laboratory testing experience.

American Journal Of Medical Genetics. Part C, Seminars In Medical Genetics
Bali, Deeksha S DS; Goldstein, Jennifer L JL; Banugaria, Suhrad S; Dai, Jian J; Mackey, Joanne J; Rehder, Catherine C; Kishnani, Priya S PS
Publication Date: 2012-02-15

Variant appearance in text: GAA: 1075G>T; Gly359X
PubMed Link: 22252923
Variant Present in the following documents:
  • Main text
View BVdb publication page