A carregar...
A Novel de novo Exon 21 DNMT1 Mutation Causes Cerebellar Ataxia, Deafness, and Narcolepsy in a Brazilian Patient
STUDY OBJECTIVES: Autosomal dominant cerebellar ataxia, deafness and narcolepsy (ADCA-DN) is caused by DNMT1 mutations. Diagnosing the syndrome can be difficult, as all clinical features may not be present at onset, HLA-DQB1*06:02 is often negative, and sporadic cases occur. We report on clinical an...
Na minha lista:
| Main Authors: | , , , , , |
|---|---|
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Associated Professional Sleep Societies, LLC
2013
|
| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3700723/ https://ncbi.nlm.nih.gov/pubmed/23904686 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.5665/sleep.2898 |
| Tags: |
Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!
|