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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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Detalles Bibliográficos
Autores principales:	Zhang, Bo, Lu, Lin, Lu, Zhaolin
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	SAGE Publications 2017
Materias:	Research Reports
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5536680/ https://www.ncbi.nlm.nih.gov/pubmed/28415939 http://dx.doi.org/10.1177/0300060516685204

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