Novel variants of CYP21A2 in Vietnamese patients with congenital adrenal hyperplasia

BACKGROUND: Congenital adrenal hyperplasia (CAH) (OMIM #201910) is a complex disease most often caused by pathogenic variant of the CYP21A2 gene. We have designed an efficient multistep approach to diagnose and classify CAH cases due to CYP21A2 variant and to study the genotype‐phenotype relationshi...

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Vydáno v:Mol Genet Genomic Med
Hlavní autoři: Chi, Dung V., Tran, Thinh H., Nguyen, Duc H., Luong, Long H., Le, Phuong T., Ta, Minh H., Ngo, Huong T. T., Nguyen, Mai P., Le‐Anh, Tuan P., Nguyen, Dat P., Bui, The‐Hung, Ta, Van T., Tran, Van K.
Médium: Artigo
Jazyk:Inglês
Vydáno: John Wiley and Sons Inc. 2019
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Original Articles
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC6503067/
https://ncbi.nlm.nih.gov/pubmed/30816000
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.623
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