A novel mutation in TTC19 associated with isolated complex III deficiency, cerebellar hypoplasia, and bilateral basal ganglia lesions

Isolated complex III (cIII) deficiency is a rare biochemical finding in mitochondrial disorders, mainly associated with mutations in mitochondrial DNA MTCYB gene, encoding cytochrome b, or in assembly factor genes (BCS1L, TTC19, UQCC2, and LYRM7), whereas mutations in nuclear genes encoding cIII str...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:Front Genet
Main Authors: Melchionda, Laura, Damseh, Nadirah S., Abu Libdeh, Bassam Y., Nasca, Alessia, Elpeleg, Orly, Zanolini, Alice, Ghezzi, Daniele
Formato: Artigo
Idioma:Inglês
Publicado em: Frontiers Media S.A. 2014
Assuntos:
Genetics
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4231952/
https://ncbi.nlm.nih.gov/pubmed/25452764
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fgene.2014.00397
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados