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Molecular diagnosis of Chinese patients with 21-hydroxylase deficiency and analysis of genotype–phenotype correlations

OBJECTIVE: The spectrum of molecular defects in Chinese patients with 21-hydroxylase deficiency (21-OHD), and genotype–phenotype relationships are unknown. METHODS: We screened eight patients with non-classical (NC) 21-OHD and 35 with classical 21-OHD, and detected nine known mutations. RESULTS: The...

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Bibliografske podrobnosti
izdano v:J Int Med Res
Main Authors: Zhang, Bo, Lu, Lin, Lu, Zhaolin
Format: Artigo
Jezik:Inglês
Izdano: SAGE Publications 2017
Teme:
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC5536680/
https://ncbi.nlm.nih.gov/pubmed/28415939
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1177/0300060516685204
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