A carregar...
Novel Homozygous Missense Mutation in SPG20 Gene Results in Troyer Syndrome Associated with Mitochondrial Cytochrome c Oxidase Deficiency
Troyer syndrome is an autosomal recessive form of hereditary spastic paraplegia (HSP) caused by deleterious mutations in the SPG20 gene. Although the disease is associated with a loss of function mechanism of spartin, the protein encoded by SPG20, the precise pathogenesis is yet to be elucidated. Re...
Na minha lista:
| Publicado no: | JIMD Rep |
|---|---|
| Main Authors: | , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Springer Berlin Heidelberg
2016
|
| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5413448/ https://ncbi.nlm.nih.gov/pubmed/27539578 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2016_580 |
| Tags: |
Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!
|