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SIPA1L3 identified by linkage analysis and whole-exome sequencing as a novel gene for autosomal recessive congenital cataract
Congenital cataract (CC) is one of the most important causes for blindness or visual impairment in infancy. A substantial proportion of isolated CCs has monogenic causes. The disease is genetically heterogeneous, and all Mendelian modes of inheritance have been reported. We mapped a locus for isolat...
में बचाया:
| में प्रकाशित: | Eur J Hum Genet |
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| मुख्य लेखकों: | , , , , , , , , , |
| स्वरूप: | Artigo |
| भाषा: | Inglês |
| प्रकाशित: |
Nature Publishing Group
2015
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| विषय: | |
| ऑनलाइन पहुंच: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4795213/ https://ncbi.nlm.nih.gov/pubmed/25804400 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2015.46 |
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