GAA c.1460T>C ;(p.F487S)

Variant ID: 17-78084548-T-C

NM_000152.3(GAA):c.1460T>C;(p.F487S)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


Enzymatic diagnosis of Pompe disease: lessons from 28 years of experience.

European Journal Of Human Genetics : Ejhg
Niño, Monica Y MY; Wijgerde, Mark M; de Faria, Douglas Oliveira Soares DOS; Hoogeveen-Westerveld, Marianne M; Bergsma, Atze J AJ; Broeders, Mike M; van der Beek, Nadine A M E NAME; van den Hout, Hannerieke J M HJM; van der Ploeg, Ans T AT; Verheijen, Frans W FW; Pijnappel, W W M Pim WWMP
Publication Date: 2021-03

Variant appearance in text: GAA: 1460T>C; Phe487Ser
PubMed Link: 33162552
Variant Present in the following documents:
  • Main text
  • 41431_2020_Article_752.pdf
View BVdb publication page



K-Ras-Activated Cells Can Develop into Lung Tumors When Runx3-Mediated Tumor Suppressor Pathways Are Abrogated.

Molecules And Cells
Lee, You-Soub YS; Lee, Ja-Yeol JY; Song, Soo-Hyun SH; Kim, Da-Mi DM; Lee, Jung-Won JW; Chi, Xin-Zi XZ; Ito, Yoshiaki Y; Bae, Suk-Chul SC
Publication Date: 2020-10-31

Variant appearance in text: GAA: 1460T>C
PubMed Link: 33115981
Variant Present in the following documents:
  • molce-43-889_Supple.xlsx, sheet 1
View BVdb publication page



Structure of human lysosomal acid α-glucosidase-a guide for the treatment of Pompe disease.

Nature Communications
Roig-Zamboni, Véronique V; Cobucci-Ponzano, Beatrice B; Iacono, Roberta R; Ferrara, Maria Carmina MC; Germany, Stanley S; Bourne, Yves Y; Parenti, Giancarlo G; Moracci, Marco M; Sulzenbacher, Gerlind G
Publication Date: 2017-10-24

Variant appearance in text: GAA: F487S
PubMed Link: 29061980
Variant Present in the following documents:
  • 41467_2017_1263_MOESM1_ESM.pdf
View BVdb publication page



Variant discovery in the sheep milk transcriptome using RNA sequencing.

Bmc Genomics
Suárez-Vega, Aroa A; Gutiérrez-Gil, Beatriz B; Klopp, Christophe C; Tosser-Klopp, Gwenola G; Arranz, Juan José JJ
Publication Date: 2017-02-15

Variant appearance in text: GAA: 1460T>C
PubMed Link: 28202015
Variant Present in the following documents:
  • 12864_2017_3581_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



Effects of a higher dose of alglucosidase alfa on ventilator-free survival and motor outcome in classic infantile Pompe disease: an open-label single-center study.

Journal Of Inherited Metabolic Disease
van Gelder, C M CM; Poelman, E E; Plug, I I; Hoogeveen-Westerveld, M M; van der Beek, N A M E NAME; Reuser, A J J AJJ; van der Ploeg, A T AT
Publication Date: 2016-05

Variant appearance in text: GAA: 1460T>C
PubMed Link: 26768149
Variant Present in the following documents:
  • 10545_2015_Article_9912.pdf
View BVdb publication page



Enzyme therapy and immune response in relation to CRIM status: the Dutch experience in classic infantile Pompe disease.

Journal Of Inherited Metabolic Disease
van Gelder, Carin M CM; Hoogeveen-Westerveld, Marianne M; Kroos, Marian A MA; Plug, Iris I; van der Ploeg, Ans T AT; Reuser, Arnold J J AJ
Publication Date: 2015-03

Variant appearance in text: GAA: 1460T>C
PubMed Link: 24715333
Variant Present in the following documents:
  • 10545_2014_Article_9707.pdf
View BVdb publication page