GAA c.1551+1G>C

Variant ID: 17-78084640-G-C

NM_000152.3(GAA):c.1551+1G>C

This variant was identified in 8 publications

View GRCh38 version.




Publications:


Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23

Variant appearance in text: GAA: 1551+1G>C
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Correction of oxidative stress enhances enzyme replacement therapy in Pompe disease.

Embo Molecular Medicine
Tarallo, Antonietta A; Damiano, Carla C; Strollo, Sandra S; Minopoli, Nadia N; Indrieri, Alessia A; Polishchuk, Elena E; Zappa, Francesca F; Nusco, Edoardo E; Fecarotta, Simona S; Porto, Caterina C; Coletta, Marcella M; Iacono, Roberta R; Moracci, Marco M; Polishchuk, Roman R; Medina, Diego Luis DL; Imbimbo, Paola P; Monti, Daria Maria DM; De Matteis, Maria Antonietta MA; Parenti, Giancarlo G
Publication Date: 2021-11-08

Variant appearance in text: GAA: 1551+1G>C
PubMed Link: 34606154
Variant Present in the following documents:
  • Main text
  • EMMM-13-e14434.pdf
View BVdb publication page



Molecular Diagnosis of Pompe Disease in the Genomic Era: Correlation with Acid Alpha-Glucosidase Activity in Dried Blood Spots.

Journal Of Clinical Medicine
Thuriot, Fanny F; Gravel, Elaine E; Hodson, Katherine K; Ganopolsky, Jorge J; Rakic, Bojana B; Waters, Paula J PJ; Gravel, Serge S; Lévesque, Sébastien S
Publication Date: 2021-08-28

Variant appearance in text: GAA: 1551+1G>C
PubMed Link: 34501319
Variant Present in the following documents:
  • Main text
  • jcm-10-03868.pdf
View BVdb publication page



Newborn Screening for Pompe Disease: Pennsylvania Experience.

International Journal Of Neonatal Screening
Ficicioglu, Can C; Ahrens-Nicklas, Rebecca C RC; Barch, Joshua J; Cuddapah, Sanmati R SR; DiBoscio, Brenda S BS; DiPerna, James C JC; Gordon, Patricia L PL; Henderson, Nadene N; Menello, Caitlin C; Luongo, Nicole N; Ortiz, Damara D; Xiao, Rui R
Publication Date: 2020-11-13

Variant appearance in text: GAA: 1551+1G>C
PubMed Link: 33202836
Variant Present in the following documents:
  • Main text
  • IJNS-06-00089.pdf
View BVdb publication page



GAA variants and phenotypes among 1,079 patients with Pompe disease: Data from the Pompe Registry.

Human Mutation
Reuser, Arnold J J AJJ; van der Ploeg, Ans T AT; Chien, Yin-Hsiu YH; Llerena, Juan J; Abbott, Mary-Alice MA; Clemens, Paula R PR; Kimonis, Virginia E VE; Leslie, Nancy N; Maruti, Sonia S SS; Sanson, Bernd-Jan BJ; Araujo, Roberto R; Periquet, Magali M; Toscano, Antonio A; Kishnani, Priya S PS; On Behalf Of The Pompe Registry Sites,
Publication Date: 2019-11

Variant appearance in text: GAA: 1551+1G>C
PubMed Link: 31342611
Variant Present in the following documents:
  • HUMU-40-2146-s001.pdf
View BVdb publication page



Familial adult-onset Pompe disease associated with unusual clinical and histological features.

Acta Myologica : Myopathies And Cardiomyopathies : Official Journal Of The Mediterranean Society Of Myology
Maggi, Lorenzo L; Salerno, Franco F; Bragato, Cinzia C; Saredi, Simona S; Blasevich, Flavia F; Maccagnano, Elio E; Pasanisi, Barbara B; Danesino, Cesare C; Mora, Marina M; Morandi, Lucia L
Publication Date: 2013-10

Variant appearance in text: GAA: 1551+1G>C
PubMed Link: 24399864
Variant Present in the following documents:
  • Main text
  • 1128-2460-32-85.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: 1551+1G>C
PubMed Link: 22252923
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: 1551+1G>C
PubMed Link: 21179066
Variant Present in the following documents:
  • Main text
View BVdb publication page