Variants of the Type II 3β-Hydroxysteroid Dehydrogenase Gene in Children with Premature Pubic Hair and Hyperandrogenic Adolescents
- 31 July 1998
- journal article
- Published by Elsevier BV in Molecular Genetics and Metabolism
- Vol. 64 (3), 184-192
- https://doi.org/10.1006/mgme.1998.2715
Abstract
No abstract availableKeywords
This publication has 30 references indexed in Scilit:
- Carrier status for steroid 21‐hydroxylase deficiency is only one factor in the variable phenotype of acneClinical Endocrinology, 1998
- Exhaustive screening of the 21-hydroxylase gene in a population of hyperandrogenic womenHuman Genetics, 1997
- A novel missense mutation in the type II 3β-hydroxysteroid dehydrogenase gene in a family with classical salt-wasting congenital adrenal hyperplasia due to 3β-hydroxysteroid dehydrogenase deficiencyHuman Molecular Genetics, 1995
- Molecular abnormalities of the 21-hydroxylase gene in hyperandrogenic women with an exaggerated 17-hydroxyprogesterone response to short-term adrenal stimulationAmerican Journal of Obstetrics and Gynecology, 1995
- Identification and characterization of the G15D mutation found in a male patient with 3.beta.-hydroxysteroid dehydrogenase (3.beta.-HSD) deficiency: alteration of the putative NAD-binding domain of Type II 3.beta.-HSDBiochemistry, 1995
- Functional characterization of the novel L108W and P186L mutations detected in the type II 3?-hydroxysteroid dehydrogenase gene of a male pseudohermaphrodite with congenital adrenal hyperplasiaHuman Molecular Genetics, 1994
- Ovarian 3,β‐hydroxysteroid dehydrogenase/Δ5‐4‐isomerase of rainbow trout: Its cDNA cloning and properties of the enzyme expressed in a mammalian cellFEBS Letters, 1994
- Molecular Diagnosis of 21-Hydroxylase Deficiency: Detection of Four Mutations on a Single GelBiochemical Medicine and Metabolic Biology, 1994
- Congenital adrenal hyperplasia caused by a novel homozygous frameshift mutation 273ΔAA in type II 3β-hydroxysteroid dehydrogenase gene (HSD3B2) in three male patients of Afghan/Pakistani originHuman Molecular Genetics, 1994
- Molecular cloning, cDNA structure and predicted amino acid sequence of bovine 3β‐hydroxy‐5‐ene steroid dehydrogenase/Δ5‐Δ4 isomeraseFEBS Letters, 1989