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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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| Yayımlandı: | J Int Med Res |
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| Asıl Yazarlar: | , , |
| Materyal Türü: | Artigo |
| Dil: | Inglês |
| Baskı/Yayın Bilgisi: |
SAGE Publications
2017
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| Konular: | |
| Online Erişim: | 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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