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Keywords: Type II 3β-HSD gene
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Journal Articles
No Genetic Mutation in Type II 3β-Hydroxysteroid Dehydrogenase Gene in Patients with Biochemical Evidence of Enzyme Deficiency
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Journal:
Hormone Research in Paediatrics
Hormone Research (1997) 47 (2): 49–53.
Published Online: 09 December 2008
..., type II 3β-HSD gene from 4 girls who were diagnosed as NC3β-HSD deficient, based on the adrenal steroidogenic responses to ACTH, was analyzed to determine whether NC3β-HSD deficiency was an allelic variant of classical 3β-HSD deficiency by polymerase chain reaction-single strand conformation...