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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Gepubliceerd in:Eur J Hum Genet
Hoofdauteurs: Spiegel, Ronen, Mandel, Hanna, Saada, Ann, Lerer, Issy, Burger, Ayala, Shaag, Avraham, Shalev, Stavit A, Jabaly-Habib, Haneen, Goldsher, Dorit, Gomori, John M, Lossos, Alex, Elpeleg, Orly, Meiner, Vardiella
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: Nature Publishing Group 2014
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Article
Online toegang: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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