Cerulean cataract mapped to 12q13 and associated with a novel initiation codon mutation in MIP

PURPOSE: To identify the genetic defect in a large Chinese family with autosomal dominant cerulean cataract. METHODS: Genomic DNA and clinical data were collected from the family. Candidate gene sequencing and genome-wide linkage analysis were used to disclose the molecular basis responsible for cer...

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Detalles Bibliográficos
Autores principales: Xiao, Xueshan, Li, Wei, Wang, Panfeng, Li, Lin, Li, Shiqiang, Jia, Xiaoyun, Sun, Wenmin, Guo, Xiangming, Zhang, Qingjiong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Molecular Vision 2011
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3154127/
https://www.ncbi.nlm.nih.gov/pubmed/21850180

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3154127/
https://www.ncbi.nlm.nih.gov/pubmed/21850180

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