Associated Papers
Pancreatitis as a Main Consequence of APOC2-Related Hypertriglyceridemia: The Role of Nonsense and Frameshift Variants.
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International Journal of Genomics, 2024
EMQN best practice guidelines for molecular genetic testing and reporting of 21-hydroxylase deficiency.
Baumgartner-Parzer S et al.
European Journal of Human Genetics : Ejhg, 2020
Congenital Adrenal Hyperplasia (CAH) due to 21-Hydroxylase Deficiency: A Comprehensive Focus on 233 Pathogenic Variants of CYP21A2 Gene.
Concolino P et al.
Molecular Diagnosis & Therapy, 2018
Structure-based activity prediction of CYP21A2 stability variants: A survey of available gene variations.
Bruque CD et al.
Scientific Reports, 2016
27966633 (PubMed )
Supplement: srep39082-s1.pdf
Investigation of CYP21A2 mutations in Turkish patients with 21-hydroxylase deficiency and a novel founder mutation.
Toraman B et al.
Gene, 2013
The human cytochrome P450 Allele Nomenclature Committee Web site: submission criteria, procedures, and objectives.
Sim SC et al.
Methods in Molecular Biology (clifton, N.j.), 2006
Cytochrome P450 enzyme system: genetic polymorphisms and impact on clinical pharmacology.
van der Weide J et al.
Annals of Clinical Biochemistry, 1999
The Human Cytochrome P450 Allele Nomenclature Committee Web Site : Submission Criteria, Procedures, and Objectives.
Sim SC et al.
Methods in Molecular Biology (clifton, N.j.), 0
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