GAA c.340_341insT ;(p.K114Ifs*32)

Variant ID: 17-78078725-A-AT

NM_000152.3(GAA):c.340_341insT;(p.K114Ifs*32)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


Isogenic GAA-KO Murine Muscle Cell Lines Mimicking Severe Pompe Mutations as Preclinical Models for the Screening of Potential Gene Therapy Strategies.

International Journal Of Molecular Sciences
Aguilar-González, Araceli A; González-Correa, Juan Elías JE; Barriocanal-Casado, Eliana E; Ramos-Hernández, Iris I; Lerma-Juárez, Miguel A MA; Greco, Sara S; Rodríguez-Sevilla, Juan José JJ; Molina-Estévez, Francisco Javier FJ; Montalvo-Romeral, Valle V; Ronzitti, Giuseppe G; Sánchez-Martín, Rosario María RM; Martín, Francisco F; Muñoz, Pilar P
Publication Date: 2022-06-04

Variant appearance in text: GAA: 340_341insT
PubMed Link: 35682977
Variant Present in the following documents:
  • ijms-23-06298.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: 340_341insT
PubMed Link: 33495531
Variant Present in the following documents:
  • Main text
  • nihms-1680101.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: 340_341insT; Lys114fs
PubMed Link: 31342611
Variant Present in the following documents:
  • Main text
  • HUMU-40-2146-s001.pdf
  • HUMU-40-2146.pdf
View BVdb publication page



Prevalence and Novel Mutations of Lysosomal Storage Disorders in United Arab Emirates : LSD in UAE.

Jimd Reports
Al-Jasmi, Fatma A FA; Tawfig, Nafisa N; Berniah, Ans A; Ali, Bassam R BR; Taleb, Mahmoud M; Hertecant, Jozef L JL; Bastaki, Fatma F; Souid, Abdul-Kader AK
Publication Date: 2013

Variant appearance in text: GAA: 340_341insT
PubMed Link: 23430803
Variant Present in the following documents:
  • Main text
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: 340_341insT; Lys114IlefsX32
PubMed Link: 22252923
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