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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محفوظ في:
التفاصيل البيبلوغرافية
المؤلفون الرئيسيون: 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.
التنسيق: Artigo
اللغة:Inglês
منشور في: American Society for Clinical Investigation 2008
الموضوعات:
Research Article
الوصول للمادة أونلاين: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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