Analysis of Mutations Causing Steroid 21-hydroxylase Deficiency
Author:
Publisher
Informa UK Limited
Subject
Endocrinology,General Medicine
Link
http://www.tandfonline.com/doi/pdf/10.1080/07435808909039099
Reference29 articles.
1. Congenital Adrenal Hyperplasia
2. CLOSE GENETIC LINKAGE BETWEEN HLA AND CONGENITAL ADRENAL HYPERPLASIA (21-HYDROXYLASE DEFICIENCY)
3. Studies on the steroid hydroxylation system in adrenal cortex microsomes. Purification and characterization of cytochrome P-450 specific for steroid C-21 hydroxylation.
4. Complete nucleotide sequence of two steroid 21-hydroxylase genes tandemly arranged in human chromosome: a pseudogene and a genuine gene.
5. Structure of human steroid 21-hydroxylase genes
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1. Unique polymorphism of the CYP21A2 gene encoding 21-hydroxylase in female patients with the signs of hyperandrogenism;Russian Journal of Bioorganic Chemistry;2012-09
2. Characterization of a new splicing mutation in the steroid 21-hydroxylase gene;Russian Journal of Bioorganic Chemistry;2011-11
3. A new DNA diagnostic system for the detection of human CYP21 gene mutations associated with adrenal cortex hyperplasia;Russian Journal of Bioorganic Chemistry;2010-05
4. Fluorescent PCR and automated fragment analysis in preimplantation genetic diagnosis for 21-hydroxylase deficiency in congenital adrenal hyperplasia;Molecular Human Reproduction;1999-07-01
5. Steroid 21-hydroxylase deficiency: Mutational spectrum in Denmark, three novel mutations, and in vitro expression analysis;Human Mutation;1999
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