相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。Genotyping of five Chinese patients with 17α-hydroxylase deficiency diagnosed through high-performance liquid chromatography serum adrenal profile:: Identification of two novel CYP17 mutations
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Phenotype-genotype correlation in eight Chinese 17α-hydroxylase/17,20 lyase-deficiency patients with five novel mutations of CYP17A1 gene
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Novel mutation of the CYP17 gene in two unrelated patients with combined 17α-hydroxylase/17,20-lyase deficiency:: Demonstration of absent enzyme activity by expressing the mutant CYP17 gene and by three-dimensional modeling
A Patocs et al.
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Two prevalent CYP17 mutations and genotype-phenotype correlations in 24 Brazilian patients with 17-hydroxylase deficiency
M Costa-Santos et al.
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P450c17 deficiency in Brazilian patients: Biochemical diagnosis through progesterone levels confirmed by CYP17 genotyping
RM Martin et al.
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Combined 17α-hydroxylase/17,20-lyase deficiency caused by Phe93Cys mutation in the CYP17 gene
A Di Cerbo et al.
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