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...

Ausführliche Beschreibung

Gespeichert in:
Bibliographische Detailangaben
Hauptverfasser: Lamperti, Costanza, Fang, Mingyan, Invernizzi, Federica, Liu, Xuanzhu, Wang, Hairong, Zhang, Qing, Carrara, Franco, Moroni, Isabella, Zeviani, Massimo, Zhang, Jianguo, Ghezzi, Daniele
Format: Artigo
Sprache:Inglês
Veröffentlicht: Academic Press 2012
Schlagworte:
Article
Online Zugang: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
Tags: Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!

Ähnliche Einträge