A carregar...
A novel missense mutation of the paired box 3 gene in a Turkish family with Waardenburg syndrome type 1
PURPOSE: Screening of mutations in the paired box 3 (PAX3) gene in three generations of a Turkish family with Waardenburg syndrome type 1 (WS1). METHODS: WS1 was diagnosed in a 13-month-old girl according to the WS Consortium criteria. Detailed family history of the proband revealed eight affected m...
Na minha lista:
| Main Authors: | , , , , |
|---|---|
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Molecular Vision
2013
|
| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3559089/ https://ncbi.nlm.nih.gov/pubmed/23378733 |
| Tags: |
Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!
|