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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Detalles Bibliográficos
Autores principales: Wang, Juan, Li, Shiqiang, Xiao, Xueshan, Wang, Panfeng, Guo, Xiangming, Zhang, Qingjiong
Formato: Texto
Lenguaje:English
Publicado: Molecular Vision 2010
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2901192/
https://www.ncbi.nlm.nih.gov/pubmed/20664692

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2901192/
https://www.ncbi.nlm.nih.gov/pubmed/20664692

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