A carregar...
A novel DFNB31 mutation associated with Usher type 2 syndrome showing variable degrees of auditory loss in a consanguineous Portuguese family.
PURPOSE: To identify the genetic defect of a consanguineous Portuguese family with rod-cone dystrophy and varying degrees of decreased audition. METHODS: A detailed ophthalmic and auditory examination was performed on a Portuguese patient with severe autosomal recessive rod-cone dystrophy. Known gen...
Na minha lista:
| Main Authors: | , , , , , , , , , , , |
|---|---|
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Molecular Vision
2011
|
| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3123164/ https://ncbi.nlm.nih.gov/pubmed/21738389 |
| Tags: |
Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!
|