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Myopathy With SQSTM1 and TIA1 Variants: Clinical and Pathological Features
OBJECTIVE: The aim of this study is to identify the molecular defect of three unrelated individuals with late-onset predominant distal myopathy; to describe the spectrum of phenotype resulting from the contributing role of two variants in genes located on two different chromosomes; and to highlight...
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| Pubblicato in: | Front Neurol |
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| Autori principali: | , , , , , , , , , , , |
| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
Frontiers Media S.A.
2018
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| Soggetti: | |
| Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5868303/ https://ncbi.nlm.nih.gov/pubmed/29599744 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fneur.2018.00147 |
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