Identification and population history of CYP4V2 mutations in patients with Bietti crystalline corneo...
Identification and population history of CYP4V2 mutations in patients with Bietti crystalline corneoretinal dystrophy
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Publisher
England: Nature Publishing Group
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Language
English
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Publisher
England: Nature Publishing Group
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Scope and Contents
Contents
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 from 58 unrelated patients with clinical diagnoses o...
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Full title
Identification and population history of CYP4V2 mutations in patients with Bietti crystalline corneoretinal dystrophy
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TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_5386409
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_5386409
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ISSN
1018-4813
E-ISSN
1476-5438
DOI
10.1038/ejhg.2016.184
