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Identification of a novel PAX6 mutation in a Chinese family with aniridia

BACKGROUND: This study aims to investigate the clinical characterization and causative genetic defect of a four-generation Chinese family with autosomal dominant aniridia. METHODS: The recruited family members underwent comprehensive routine and ophthalmic examinations, and Sanger sequencing was per...

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Detalles Bibliográficos
Autores principales:	Qiu, Jing-Jing, Zhang, Qian, Geng, Zi-xin, Liu, Min, Zhong, Zi-lin, Chen, Jian-jun, Liu, Fei
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2019
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6325832/ https://www.ncbi.nlm.nih.gov/pubmed/30621664 http://dx.doi.org/10.1186/s12886-018-1009-6

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