CYP21A2 Mutation Analysis in Korean Patients With Congenital Adrenal Hyperplasia Using Complementary Methods: Sequencing After Long-Range PCR and Restriction Fragment Length Polymorphism Analysis With Multiple Ligation-Dependent Probe Amplification Assay

CYP21A2 mutation analysis of congenital adrenal hyperplasia (CAH) is challenging because of the genomic presence of a homologous CYP21A2 pseudogene and the significant incidence of pseudogene conversion and large deletions. The objective of this study was to accurately analyze the CYP21A2 genotype i...

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Dades bibliogràfiques
Publicat a:Ann Lab Med
Autors principals: Hong, Geehay, Park, Hyung-Doo, Choi, Rihwa, Jin, Dong-Kyu, Kim, Jae Hyeon, Ki, Chang-Seok, Lee, Soo-Youn, Song, Junghan, Kim, Jong-Won
Format: Artigo
Idioma:Inglês
Publicat: The Korean Society for Laboratory Medicine 2015
Matèries:
Brief Communication
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC4510508/
https://ncbi.nlm.nih.gov/pubmed/26206692
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3343/alm.2015.35.5.535
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