Cargando…
Reply: Hereditary myopathy with early respiratory failure is caused by mutations in the titin FN3 119 domain
Autores principales: | Pfeffer, Gerald, Chinnery, Patrick F. |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Oxford University Press
2014
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4032096/ https://www.ncbi.nlm.nih.gov/pubmed/24578547 http://dx.doi.org/10.1093/brain/awu034 |
Ejemplares similares
-
Reply: Hereditary myopathy with early respiratory failure is caused by mutations in the titin FN3 119 domain
por: Pfeffer, Gerald, et al.
Publicado: (2014) -
A new disease allele for the p.C30071R mutation in titin causing hereditary myopathy with early respiratory failure()
por: Pfeffer, Gerald, et al.
Publicado: (2014) -
Exome sequencing identifies titin mutations causing hereditary myopathy with early respiratory failure (HMERF) in families of diverse ethnic origins
por: Toro, Camilo, et al.
Publicado: (2013) -
A Japanese Patient with Hereditary Myopathy with Early Respiratory Failure Due to the p.P31732L Mutation of Titin
por: Sano, Yasuteru, et al.
Publicado: (2021) -
Removal of immunoglobulin-like domains from titin’s spring segment alters titin splicing in mouse skeletal muscle and causes myopathy
por: Buck, Danielle, et al.
Publicado: (2014)