Comprehensive screening of CYP4V2 in a cohort of Chinese patients with Bietti crystalline dystrophy.

Conclusions: The findings expand the mutational spectrum of CYP4V2 and further confirm the c.802-8_810del17insGC mutation was due to a founder effect in a large cohort of Chinese patients. PMID: 30429639 [PubMed - in process]
Source: Molecular Vision - Category: Molecular Biology Tags: Mol Vis Source Type: research