DMD c.1350G>C ;(p.M450I)

Variant ID: X-32632552-C-G

NM_004006.2(DMD):c.1350G>C;(p.M450I)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


DMD Mutations in 576 Dystrophinopathy Families: A Step Forward in Genotype-Phenotype Correlations.

Plos One
Juan-Mateu, Jonas J; Gonzalez-Quereda, Lidia L; Rodriguez, Maria Jose MJ; Baena, Manel M; Verdura, Edgard E; Nascimento, Andres A; Ortez, Carlos C; Baiget, Montserrat M; Gallano, Pia P
Publication Date: 2015

Variant appearance in text: DMD: Met450Ile
PubMed Link: 26284620
Variant Present in the following documents:
  • Main text
  • pone.0135189.pdf
View BVdb publication page



Interplay between DMD point mutations and splicing signals in Dystrophinopathy phenotypes.

Plos One
Juan-Mateu, Jonàs J; González-Quereda, Lidia L; Rodríguez, Maria José MJ; Verdura, Edgard E; Lázaro, Kira K; Jou, Cristina C; Nascimento, Andrés A; Jiménez-Mallebrera, Cecilia C; Colomer, Jaume J; Monges, Soledad S; Lubieniecki, Fabiana F; Foncuberta, Maria Eugenia ME; Pascual-Pascual, Samuel Ignacio SI; Molano, Jesús J; Baiget, Montserrat M; Gallano, Pia P
Publication Date: 2013

Variant appearance in text: DMD: Met450Ile
PubMed Link: 23536893
Variant Present in the following documents:
  • Main text
  • pone.0059916.pdf
View BVdb publication page