Associated Papers
Prevalence of CYP17A1 gene mutations in 17α-hydroxylase deficiency in the Chinese Han population.
Wang M et al.
Clinical Hypertension, 2019
Biallelic mutations in the ferredoxin reductase gene cause novel mitochondriopathy with optic atrophy.
Peng Y et al.
Human Molecular Genetics, 2018
Novel gene mutations in patients with 1alpha-hydroxylase deficiency that confer partial enzyme activity in vitro.
Wang X et al.
The Journal of Clinical Endocrinology and Metabolism, 2002
Genetics of vitamin D 1alpha-hydroxylase deficiency in 17 families.
Wang JT et al.
American Journal of Human Genetics, 1998
Select a paper to view details