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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...

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Vydáno v:PLoS One
Hlavní autoři: Song, Zixun, Wang, Lianqing, Liu, Yaping, Xiao, Wei
Médium: Artigo
Jazyk:Inglês
Vydáno: Public Library of Science 2015
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4372439/
https://ncbi.nlm.nih.gov/pubmed/25803033
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0119296
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