A carregar...
A novel TUBB4A mutation G96R identified in a patient with hypomyelinating leukodystrophy onset beyond adolescence
The tubulin beta-4A gene (TUBB4A) is associated with two different clinical conditions, dystonia type 4 (DYT4) and hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC). We identified a novel TUBB4A mutation, c.286G>A (p.G96R), in an adult male patient who suffered neurological...
Na minha lista:
| Publicado no: | Hum Genome Var |
|---|---|
| Main Authors: | , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Nature Publishing Group
2017
|
| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5540734/ https://ncbi.nlm.nih.gov/pubmed/28791129 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/hgv.2017.35 |
| Tags: |
Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!
|