A carregar...
Choline acetyltransferase mutations causing congenital myasthenic syndrome: molecular findings and genotype-phenotype correlations
Choline acetyltransferase catalyzes the synthesis of acetylcholine at cholinergic nerves. Mutations in human CHAT cause a congenital myasthenic syndrome (CMS) due to impaired synthesis of ACh; this severe variant of the disease is frequently associated with unexpected episodes of potentially fatal a...
Na minha lista:
| Publicado no: | Hum Mutat |
|---|---|
| Main Authors: | , , , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2015
|
| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4537391/ https://ncbi.nlm.nih.gov/pubmed/26080897 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.22823 |
| Tags: |
Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!
|