Associated Papers
Hypokalaemic hypertension and 17-alpha-hydroxylase/17,20-lyase deficiency in a young girl: a case report.
Yau HN et al.
Hong Kong Medical Journal = Xianggang Yi Xue Za Zhi, 2024
A Patient with Partial 17α-Hydroxylase Deficiency Initially Diagnosed with Asherman Syndrome and Pheochromocytoma.
Yu H et al.
International Heart Journal, 2024
Clinical and Genetic Analysis of a Patient With Coexisting 17a-Hydroxylase/17,20-Lyase Deficiency and Moyamoya Disease.
Huang J et al.
Frontiers in Genetics, 2022
A rare intronic mutation in the splice acceptor site of the CYP17A1 gene in a patient with 17α-hydroxylase/17,20-lyase deficiency.
Guo X et al.
Gynecological Endocrinology : the Official Journal of the International Society of Gynecological Endocrinology, 2021
Prevalence of CYP17A1 gene mutations in 17α-hydroxylase deficiency in the Chinese Han population.
Wang M et al.
Clinical Hypertension, 2019
Targeted next-generation sequencing identification of mutations in patients with disorders of sex development.
Dong Y et al.
Bmc Medical Genetics, 2016
Mechanistic Evaluation for Mixed-field Agglutination in the K562 Cell Study Model with Exon 3 Deletion of A1 Gene.
Chen DP et al.
Annals of Clinical and Laboratory Science, 2015
Genetic and mechanistic evaluation for the mixed-field agglutination in B3 blood type with IVS3+5G>A ABO gene mutation.
Chen DP et al.
Plos One, 2012
CYP17A1 intron mutation causing cryptic splicing in 17α-hydroxylase deficiency.
Hwang DY et al.
Plos One, 2011
Select a paper to view details