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See Latest ArticlesAlterations in serum fatty acid concentrations and desaturase activities in Bietti crystalline dystrophy unaffected by CYP4V2 genotypes
Investigative Ophthalmology and Visual Science, 10/15/09
Lai T et al. – Abnormal serum fatty acid compositions with reduced delta–9–desaturase activities were detected in BCD patients, and the metabolic derangement was unaffected by CYP4V2 mutations. The findings suggest that systemic abnormality in fatty acid metabolism occurs in BCD patients independent of CYP4V2 genotype.
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