Whole Exome Sequencing Reveals a Mutation in CRYBB2 in a Large Mexican Family with Autosomal Dominant Pulverulent Cataract
Congenital cataract, an important cause of reversible blindness, is due to several causes including Mendelian inheritance. Thirty percent of cataracts are hereditary with participation of the gamma crystallin genes. Clinical and genetic heterogeneity is observed in patients with gene mutations and c...
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| Hlavní autoři: | , , , , |
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| Médium: | Text |
| Jazyk: | angličtina |
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S. Karger AG
2016
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| Témata: | |
| On-line přístup: | https://pmc.ncbi.nlm.nih.gov/articles/PMC4906430/ https://pubmed.ncbi.nlm.nih.gov/27385965 http://dx.doi.org/10.1159/000445669 |
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