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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Detalles Bibliográficos
Autores principales: Hong, Geehay, Park, Hyung-Doo, Choi, Rihwa, Jin, Dong-Kyu, Kim, Jae Hyeon, Ki, Chang-Seok, Lee, Soo-Youn, Song, Junghan, Kim, Jong-Won
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Korean Society for Laboratory Medicine 2015
Materias:
Brief Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4510508/
https://www.ncbi.nlm.nih.gov/pubmed/26206692
http://dx.doi.org/10.3343/alm.2015.35.5.535

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