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Delineation of C12orf65-related phenotypes: a genotype–phenotype relationship
C12orf65 participates in the process of mitochondrial translation and has been shown to be associated with a spectrum of phenotypes, including early onset optic atrophy, progressive encephalomyopathy, peripheral neuropathy, and spastic paraparesis.We used whole-genome homozygosity mapping as well as...
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發表在: | Eur J Hum Genet |
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Main Authors: | , , , , , , , , , , , , |
格式: | Artigo |
語言: | Inglês |
出版: |
Nature Publishing Group
2014
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主題: | |
在線閱讀: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4350599/ https://ncbi.nlm.nih.gov/pubmed/24424123 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2013.284 |
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