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...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Ann Lab Med
Prif Awduron: Hong, Geehay, Park, Hyung-Doo, Choi, Rihwa, Jin, Dong-Kyu, Kim, Jae Hyeon, Ki, Chang-Seok, Lee, Soo-Youn, Song, Junghan, Kim, Jong-Won
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: The Korean Society for Laboratory Medicine 2015
Pynciau:
Brief Communication
Mynediad Ar-lein: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
Tagiau: Ychwanegu Tag
Dim Tagiau, Byddwch y cyntaf i dagio'r cofnod hwn!

Eitemau Tebyg