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Identification and population history of CYP4V2 mutations in patients with Bietti crystalline corneoretinal dystrophy
To identify known and novel CYP4V2 mutations in patients with Bietti crystalline cornea (BCD), expand the spectrum of CYP4V2 mutations, and characterize the population history of the c.802-8_810del17insGC mutation common in Asian populations, genomic DNA was isolated from peripheral blood samples fr...
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| 發表在: | Eur J Hum Genet |
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| Main Authors: | , , , , , , , , |
| 格式: | Artigo |
| 語言: | Inglês |
| 出版: |
Nature Publishing Group
2017
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| 主題: | |
| 在線閱讀: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5386409/ https://ncbi.nlm.nih.gov/pubmed/28051075 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2016.184 |
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