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Novel Genetic Findings in a Chinese Family with Axenfeld-Rieger Syndrome

PURPOSE: To describe a Chinese family with Axenfeld-Rieger syndrome (ARS) and report our novel genetic findings. METHODS: Nine members of the same family underwent complete ophthalmologic examinations and genetic analysis. Genomic DNA was isolated from veinal blood and amplifed using PCR; the produc...

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Detalles Bibliográficos
Autores principales: Li, Kuanshu, Yang, Liu, Liu, Ying, Lin, Ding
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5485333/
https://www.ncbi.nlm.nih.gov/pubmed/28695001
http://dx.doi.org/10.1155/2017/5078079