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Mitochondrial Dysfunction may explain symptom variation in Phelan-McDermid Syndrome
Phelan-McDermid Syndrome (PMS), which is defined by a deletion within 22q13, demonstrates significant phenotypic variation. Given that six mitochondrial genes are located within 22q13, including complex I and IV genes, we hypothesize that mitochondrial complex activity abnormalities may explain phen...
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| Publicado no: | Sci Rep |
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| Main Authors: | , , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Nature Publishing Group
2016
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4731780/ https://ncbi.nlm.nih.gov/pubmed/26822410 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/srep19544 |
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