Functional characterization of eight rare missense CYP1B1 variants involved in congenital glaucoma and their association with null genotypes
Purpose To evaluate the function of eight missense CYP1B1 single nucleotide variants (SNVs) previously identified in patients with primary congenital glaucoma (PCG). Methods The eight variants were obtained by site‐directed mutagenesis and transiently expressed in human embryonic kidney 293‐T (HEK‐2...
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Veröffentlicht in: | Acta ophthalmologica (Oxford, England) England), 2016-11, Vol.94 (7), p.e555-e560 |
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