Modeling the human MTM1 p.R69C mutation in murine Mtm1 results in exon 4 skipping and a less severe myotubular myopathy phenotype

X-linked myotubular myopathy (MTM) is a severe neuromuscular disease of infancy caused by mutations of MTM1, which encodes the phosphoinositide lipid phosphatase, myotubularin. The Mtm1 knockout (KO) mouse has a severe phenotype and its short lifespan (8 weeks) makes it a challenge to use as a model...

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Main Authors: Pierson, Christopher R., Dulin-Smith, Ashley N., Durban, Ashley N., Marshall, Morgan L., Marshall, Jordan T., Snyder, Andrew D., Naiyer, Nada, Gladman, Jordan T., Chandler, Dawn S., Lawlor, Michael W., Buj-Bello, Anna, Dowling, James J., Beggs, Alan H.
Format: Artigo
Sprog:Inglês
Udgivet: Oxford University Press 2012
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Articles
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3263994/
https://ncbi.nlm.nih.gov/pubmed/22068590
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddr512
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