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-Reference-Cited by-同舟云学术

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

Published:2015-09-01 Issue:5 Volume:35 Page:535-539
ISSN:2234-3806
Container-title:Annals of Laboratory Medicine
language:en
Short-container-title:Ann Lab Med

Author:

Hong Geehay¹,Park Hyung-Doo¹,Choi Rihwa¹,Jin Dong-Kyu²,Kim Jae Hyeon³,Ki Chang-Seok¹,Lee Soo-Youn¹,Song Junghan⁴,Kim Jong-Won¹

Affiliation:

1. Departments of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea

2. Departments of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea

3. Departments of Medicine, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea

4. Department of Laboratory Medicine, Seoul National University Bundang Hospital, Seoul National University College of Medicine, Seongnam, Korea

Funder

Ministry of Health and Welfare

Publisher

Annals of Laboratory Medicine

Subject

Biochemistry, medical,Clinical Biochemistry,General Medicine

Link

https://synapse.koreamed.org/pdf/10.3343/alm.2015.35.5.535

Reference18 articles.

1. Congenital Adrenal Hyperplasia Due to Steroid 21-Hydroxylase Deficiency: An Endocrine Society Clinical Practice Guideline

2. Structure of human steroid 21-hydroxylase genes

3. Congenital Adrenal Hyperplasia

4. Variants of the CYP21A2 and CYP21A1P genes in congenital adrenal hyperplasia

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