GAA c.1827C>G ;(p.Y609*)

Variant ID: 17-78086449-C-G

NM_000152.3(GAA):c.1827C>G;(p.Y609*)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Clinical characteristics and survival of children with hypertrophic cardiomyopathy in China: A multicentre retrospective cohort study.

Eclinicalmedicine
Chan, Wenxiu W; Yang, Shiwei S; Wang, Jian J; Tong, Shilu S; Lin, Minyin M; Lu, Pengtao P; Yao, Ruen R; Wu, Lanping L; Chen, Lijun L; Guo, Ying Y; Shen, Jie J; Liu, Tingliang T; Li, Fen F; Chen, Huiwen H; Zhang, Hao H; Wang, Shushui S; Fu, Lijun L
Publication Date: 2022-07

Variant appearance in text: GAA: 1827C>G; Tyr609*
PubMed Link: 35747179
Variant Present in the following documents:
  • mmc1.pdf
View BVdb publication page



Transforming the clinical outcome in CRIM-negative infantile Pompe disease identified via newborn screening: the benefits of early treatment with enzyme replacement therapy and immune tolerance induction.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Li, Cindy C; Desai, Ankit K AK; Gupta, Punita P; Dempsey, Katherine K; Bhambhani, Vikas V; Hopkin, Robert J RJ; Ficicioglu, Can C; Tanpaiboon, Pranoot P; Craigen, William J WJ; Rosenberg, Amy S AS; Kishnani, Priya S PS
Publication Date: 2021-05

Variant appearance in text: GAA: 1827C>G
PubMed Link: 33495531
Variant Present in the following documents:
  • Main text
  • nihms-1680101.pdf
View BVdb publication page



Lessons Learned from Pompe Disease Newborn Screening and Follow-up.

International Journal Of Neonatal Screening
Klug, Tracy L TL; Swartz, Lori B LB; Washburn, Jon J; Brannen, Candice C; Kiesling, Jami L JL
Publication Date: 2020-03

Variant appearance in text: GAA: 1827C>G
PubMed Link: 33073009
Variant Present in the following documents:
  • Main text
  • IJNS-06-00011.pdf
View BVdb publication page



Benefits of Prophylactic Short-Course Immune Tolerance Induction in Patients With Infantile Pompe Disease: Demonstration of Long-Term Safety and Efficacy in an Expanded Cohort.

Frontiers In Immunology
Desai, Ankit K AK; Baloh, Carolyn H CH; Sleasman, John W JW; Rosenberg, Amy S AS; Kishnani, Priya S PS
Publication Date: 2020

Variant appearance in text: GAA: 1827C>G
PubMed Link: 32849613
Variant Present in the following documents:
  • Main text
  • fimmu-11-01727.pdf
View BVdb publication page



A novel compound heterozygous GAA mutation in a Chinese family with juvenile onset form of Pompe disease with cardiomyopathy.

International Journal Of Clinical And Experimental Pathology
Xu, Lingling L; Zhang, Lidan L; Zhong, Liangying L; Huang, Xueqiong X; Li, Suping S; Cheng, Yucai Y; Liang, Yujian Y; Pei, Yuxin Y; Huang, Huimin H; Tang, Wen W; Zhang, Cheng C
Publication Date: 2017

Variant appearance in text: GAA: 1827C>G
PubMed Link: 31966564
Variant Present in the following documents:
  • Main text
View BVdb publication page