A carregar...
DPAGT1 myasthenia and myopathy: Genetic, phenotypic, and expression studies
OBJECTIVE: To investigate patients with DPAGT1 (UDP-N-acetylglucosamine-dolichyl-phosphate N-acetylglucosaminephosphotransferase 1)-associated myasthenic syndrome. METHODS: We performed exome and Sanger sequencing, determined glycoprotein expression in patient muscles, assessed pathogenicity of the...
Na minha lista:
| Main Authors: | , , , , , , |
|---|---|
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Lippincott Williams & Wilkins
2014
|
| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4035711/ https://ncbi.nlm.nih.gov/pubmed/24759841 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/WNL.0000000000000435 |
| Tags: |
Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!
|