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Article

Comprehensive Analysis of Congenital Adrenal Hyperplasia Using Long-Read Sequencing.

Clinical chemistry - 3 Jul 2022

Liu Yingdi, Chen Miaomiao, Liu Jing, Mao Aiping, Teng Yanling, Yan Huiming, Zhu Huimin, Li Zhuo, Liang Desheng, Wu Lingqian

Abstract excerpt

BACKGROUND: Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder that has been included in newborn screening programs. Current approaches to gene testing for CAH are facing challenges because of the complexity of the CYP21A2 locus and genetic heterogeneity of the disease. METHODS: A comprehensive analysis of CAH (CACAH) combining long-range locus-specific PCR and long-read sequencing (LRS) was...

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Share to Adrenal Hyperplasia, Congenital
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Steroid 11-beta-Hydroxylase

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Source

Identifiers

PMID: 35714169
DOI: 10.1093/clinchem/hvac046

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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