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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Gepubliceerd in:Eur J Hum Genet
Hoofdauteurs: Jiao, Xiaodong, Li, Anren, Jin, Zi-Bing, Wang, Xinjing, Iannaccone, Alessandro, Traboulsi, Elias I, Gorin, Michael B, Simonelli, Francesca, Hejtmancik, J Fielding
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: Nature Publishing Group 2017
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Article
Online toegang: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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