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Deep intronic GPR143 mutation in a Japanese family with ocular albinism
Deep intronic mutations are often ignored as possible causes of human disease. Using whole-exome sequencing, we analysed genomic DNAs of a Japanese family with two male siblings affected by ocular albinism and congenital nystagmus. Although mutations or copy number alterations of coding regions were...
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| Pubblicato in: | Sci Rep |
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| Autori principali: | , , , , , , |
| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
Nature Publishing Group
2015
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| Soggetti: | |
| Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4650666/ https://ncbi.nlm.nih.gov/pubmed/26061757 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/srep11334 |
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