A carregar...
Pseudodominant AOA2
We report a mother and daughter with autosomal recessive ataxia with occulomotor apraxia in whom sequence analysis of senataxin revealed a dignosis of AOA2 (ataxia with occulomotor apraxia type 2) in both individuals. The apparent dominant inheritance pattern (pseudodominant) was the result of the u...
Na minha lista:
| Publicado no: | Cerebellum Ataxias |
|---|---|
| Main Authors: | , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BioMed Central
2015
|
| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4552145/ https://ncbi.nlm.nih.gov/pubmed/26331048 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s40673-015-0024-0 |
| Tags: |
Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!
|