Proteomic identification of FHL1 as the protein mutated in human reducing body myopathy

Reducing body myopathy (RBM) is a rare disorder causing progressive muscular weakness characterized by aggresome-like inclusions in the myofibrils. Identification of genes responsible for RBM by traditional genetic approaches has been impossible due to the frequently sporadic occurrence in affected...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Main Authors: Schessl, Joachim, Zou, Yaqun, McGrath, Meagan J., Cowling, Belinda S., Maiti, Baijayanta, Chin, Steven S., Sewry, Caroline, Battini, Roberta, Hu, Ying, Cottle, Denny L., Rosenblatt, Michael, Spruce, Lynn, Ganguly, Arupa, Kirschner, Janbernd, Judkins, Alexander R., Golden, Jeffrey A., Goebel, Hans-Hilmar, Muntoni, Francesco, Flanigan, Kevin M., Mitchell, Christina A., Bönnemann, Carsten G.
Formato: Artigo
Idioma:Inglês
Publicado em: American Society for Clinical Investigation 2008
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2242623/
https://ncbi.nlm.nih.gov/pubmed/18274675
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1172/JCI34450
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados