Long-read sequencing: An effective method for genetic analysis of CYP21A2 variation in congenital adrenal hyperplasia
Author:
Publisher
Elsevier BV
Subject
Biochemistry (medical),Clinical Biochemistry,Biochemistry,General Medicine
Reference49 articles.
1. Congenital adrenal hyperplasia due to 21-hydroxylase deficiency;Merke;N. Engl. J. Med.,2020
2. Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency: an endocrine society clinical practice guideline;Speiser;J. Clin. Endocrinol. Metab.,2018
3. Revisiting the prevalence of nonclassic congenital adrenal hyperplasia in US Ashkenazi Jews and Caucasians;Hannah-Shmouni;Genet. Med.,2017
4. High carrier frequency of 21-hydroxylase deficiency in Cyprus;Phedonos;Clin. Genet.,2013
5. Estimation of carrier frequencies of six autosomal-recessive Mendelian disorders in the Korean population;Song;J. Hum. Genet.,2012
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1. Improved Genetic Characterization of Congenital Adrenal Hyperplasia by Long-Read Sequencing Compared with Multiplex Ligation-Dependent Probe Amplification Plus Sanger Sequencing;The Journal of Molecular Diagnostics;2024-09
2. Long read sequencing on its way to the routine diagnostics of genetic diseases;Frontiers in Genetics;2024-03-06
3. Application of long read sequencing in rare diseases: The longer, the better?;European Journal of Medical Genetics;2023-12
4. Third-generation sequencing for genetic disease;Clinica Chimica Acta;2023-11
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