A novel homozygous mutation in SUCLA2 gene identified by exome sequencing

Mitochondrial disorders with multiple mitochondrial respiratory chain (MRC) enzyme deficiency and depletion of mitochondrial DNA (mtDNA) are autosomal recessive conditions due to mutations in several nuclear genes necessary for proper mtDNA maintenance. In this report, we describe two Italian siblin...

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Xehetasun bibliografikoak
Egile Nagusiak: Lamperti, Costanza, Fang, Mingyan, Invernizzi, Federica, Liu, Xuanzhu, Wang, Hairong, Zhang, Qing, Carrara, Franco, Moroni, Isabella, Zeviani, Massimo, Zhang, Jianguo, Ghezzi, Daniele
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: Academic Press 2012
Gaiak:
Article
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC3490101/
https://ncbi.nlm.nih.gov/pubmed/23010432
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgme.2012.08.020
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