Associated Papers
CYP51A1 in health and disease: from sterol metabolism to regulated cell death.
Chen F et al.
Cell Death Discovery, 2025
Evaluation of Selected CYP51A1 Polymorphisms in View of Interactions with Substrate and Redox Partner.
Režen T et al.
Frontiers in Pharmacology, 2017
Diagnosing the cause of bilateral paediatric cataracts: comparison of standard testing with a next-generation sequencing approach.
Musleh M et al.
Eye (london, England), 2016
Next-generation Sequencing in the Diagnosis of Metabolic Disease Marked by Pediatric Cataract.
Gillespie RL et al.
Ophthalmology, 2016
Personalized diagnosis and management of congenital cataract by next-generation sequencing.
Gillespie RL et al.
Ophthalmology, 2014
Expansion of genotype/phenotype correlation in an individual with compound heterozygous variants in CYP51A1 and congenital cataract.
Colonna MB et al.
Molecular Genetics and Metabolism, 0
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