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A Novel Nonsense Mutation in the MIP Gene Linked to Congenital Posterior Polar Cataracts in a Chinese Family
PURPOSE: To detect the causative mutation for congenital posterior polar cataracts in a five-generation Chinese family and further explore the potential pathogenesis of this disease. METHODS: Coding exons, with flanking sequences of five candidate genes, were screened using direct DNA sequencing. Th...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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Public Library of Science
2015
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4372439/ https://www.ncbi.nlm.nih.gov/pubmed/25803033 http://dx.doi.org/10.1371/journal.pone.0119296 |