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

Internet

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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