A novel splice site mutation in the COL4A5 gene in a Chinese female patient with rare ocular abnormalities

PURPOSE: To describe an unusual ocular phenotype in a Chinese female patient with X-linked Alport syndrome (XLAS), and to characterize the type IV collagen alpha 5 (COL4A5) gene mutation in the patient and her son. METHODS: Detailed ophthalmologic examinations and optical coherence tomography were p...

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Detalles Bibliográficos
Autores principales: Zhao, Chan, Wang, Fang, Zhang, Yanqin, Wen, Yubing, Su, Ying, Zhang, Chengfen, Sui, Ruifang, Xu, Fei, Ding, Jie, Dong, Fangtian
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Molecular Vision 2012
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3425574/
https://www.ncbi.nlm.nih.gov/pubmed/22919268

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3425574/
https://www.ncbi.nlm.nih.gov/pubmed/22919268

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