DMD c.160_162del ;(p.L54del)

Variant ID: X-32867868-CGAG-C

NM_004006.2(DMD):c.160_162del;(p.L54del)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Corrigendum: Genetic diagnosis of Duchenne/Becker muscular dystrophy using next-generation sequencing: validation analysis of DMD mutations.

Journal Of Human Genetics
Okubo, Mariko M; Minami, Narihiro N; Goto, Kanako K; Goto, Yuichi Y; Noguchi, Satoru S; Mitsuhashi, Satomi S; Nishino, Ichizo I
Publication Date: 2017-10

Variant appearance in text: DMD: 160_162delCTC; Leu54del
PubMed Link: 28943641
Variant Present in the following documents:
  • 10038_2017_Article_BFjhg201754.pdf
View BVdb publication page



Genetic diagnosis of Duchenne/Becker muscular dystrophy using next-generation sequencing: validation analysis of DMD mutations.

Journal Of Human Genetics
Okubo, Mariko M; Minami, Narihiro N; Goto, Kanako K; Goto, Yuichi Y; Noguchi, Satoru S; Mitsuhashi, Satomi S; Nishino, Ichizo I
Publication Date: 2016-06

Variant appearance in text: DMD: 160_162delCTC; Leu54del
PubMed Link: 26911353
Variant Present in the following documents:
  • Main text
  • jhg20167a.pdf
View BVdb publication page



One hundred twenty-one dystrophin point mutations detected from stored DNA samples by combinatorial denaturing high-performance liquid chromatography.

The Journal Of Molecular Diagnostics : Jmd
Torella, Annalaura A; Trimarco, Amelia A; Blanco, Francesca Del Vecchio Fdel V; Cuomo, Anna A; Aurino, Stefania S; Piluso, Giulio G; Minetti, Carlo C; Politano, Luisa L; Nigro, Vincenzo V
Publication Date: 2010-01

Variant appearance in text: DMD: L54del
PubMed Link: 19959795
Variant Present in the following documents:
  • Main text
View BVdb publication page