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Molecular modelling of mitofusin 2 for a prediction for Charcot-Marie-Tooth 2A clinical severity
Charcot-Marie-Tooth disease type 2A (CMT2A) is an autosomal dominant neuropathy caused by mutations in the mitofusin 2 gene (MFN2). More than 100 MFN2 gene mutations have been reported so far, with majority located within the GTPase domain encoding region. These domain-specific mutations present wid...
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| Vydáno v: | Sci Rep |
|---|---|
| Hlavní autoři: | , , , , |
| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
Nature Publishing Group UK
2018
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| Témata: | |
| On-line přístup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6237821/ https://ncbi.nlm.nih.gov/pubmed/30442897 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41598-018-35133-9 |
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