DMD c.3487C>T ;(p.Q1163*)

Variant ID: X-32472895-G-A

NM_004006.2(DMD):c.3487C>T;(p.Q1163*)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


MLPA followed by target-NGS to detect mutations in the dystrophin gene of Peruvian patients suspected of DMD/DMB.

Molecular Genetics & Genomic Medicine
Guevara-Fujita, María Luisa ML; Huaman-Dianderas, Francia F; Obispo, Daisy D; Sánchez, Rodrigo R; Barrenechea, Victor V; Rojas-Málaga, Diana D; Estrada-Cuzcano, Alejandro A; Trubnykova, Milana M; Cornejo-Olivas, Mario M; Marca, Victoria V; Gallardo, Bertha B; Dueñas-Roque, Milagros M; Protzel, Ana A; Castañeda, Carlos C; Abarca, Hugo H; Celis, Luis L; La Serna-Infantes, Jorge J; Fujita, Ricardo R
Publication Date: 2021-09

Variant appearance in text: DMD: Gln1163*
PubMed Link: 34327855
Variant Present in the following documents:
  • Main text
  • MGG3-9-e1759.pdf
View BVdb publication page



MLPA followed by target-NGS to detect mutations in the dystrophin gene of Peruvian patients suspected of DMD/DMB.

Molecular Genetics & Genomic Medicine
Guevara-Fujita, María Luisa ML; Huaman-Dianderas, Francia F; Obispo, Daisy D; Sánchez, Rodrigo R; Barrenechea, Victor V; Rojas-Málaga, Diana D; Estrada-Cuzcano, Alejandro A; Trubnykova, Milana M; Cornejo-Olivas, Mario M; Marca, Victoria V; Gallardo, Bertha B; Dueñas-Roque, Milagros M; Protzel, Ana A; Castañeda, Carlos C; Abarca, Hugo H; Celis, Luis L; La Serna-Infantes, Jorge J; Fujita, Ricardo R
Publication Date: 2021-09

Variant appearance in text: DMD: Gln1163*
PubMed Link: 34327855
Variant Present in the following documents:
  • Main text
  • MGG3-9-e1759.pdf
View BVdb publication page



Efficient precise in vivo base editing in adult dystrophic mice.

Nature Communications
Xu, Li L; Zhang, Chen C; Li, Haiwen H; Wang, Peipei P; Gao, Yandi Y; Mokadam, Nahush A NA; Ma, Jianjie J; Arnold, W David WD; Han, Renzhi R
Publication Date: 2021-06-17

Variant appearance in text: DMD: 3487C>T
PubMed Link: 34140489
Variant Present in the following documents:
  • 41467_2021_23996_MOESM1_ESM.pdf
View BVdb publication page



Comprehensive genetic diagnosis of patients with Duchenne/Becker muscular dystrophy (DMD/BMD) and pathogenicity analysis of splice site variants in the DMD gene.

Journal Of Zhejiang University. Science. B
Yang, Yan-Mei YM; Yan, Kai K; Liu, Bei B; Chen, Min M; Wang, Li-Ya LY; Huang, Ying-Zhi YZ; Qian, Ye-Qing YQ; Sun, Yi-Xi YX; Li, Hong-Ge HG; Dong, Min-Yue MY
Publication Date: 2019

Variant appearance in text: DMD: 3487C>T; Gln1163Ter
PubMed Link: 31379145
Variant Present in the following documents:
  • Main text
View BVdb publication page



[Application of next-generation sequencing in the molecular diagnosis of Duchenne muscular dystrophy].

Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal Of Contemporary Pediatrics
Tian, Pei-Chao PC; Wang, Yue Y; Shi, Dan-Dan DD; Chen, Zheng Z; Luo, Qiang Q; Wang, Huai-Li HL
Publication Date: 2019-03

Variant appearance in text: DMD: 3487C>T
PubMed Link: 30907348
Variant Present in the following documents:
  • Main text
View BVdb publication page