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...

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Bibliografische gegevens
Hoofdauteurs: 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.
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: American Society for Clinical Investigation 2008
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Research Article
Online toegang: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
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