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PAX3 mutations and clinical characteristics in Chinese patients with Waardenburg syndrome type 1
PURPOSE: To detect paired box gene 3 (PAX3) mutations and associated phenotypes in Chinese patients with Waardenburg syndrome type 1 (WS1). METHODS: Five unrelated families with suspected WS1 were selected from our Genomic DNA Repository for Hereditary Eye Diseases. The coding and adjacent intronic...
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| Main Authors: | , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado: |
Molecular Vision
2010
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| Assuntos: | |
| Acceso en liña: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2901192/ https://ncbi.nlm.nih.gov/pubmed/20664692 |
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