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GRAde: a long-read sequencing approach to efficiently identifying the CYP11B1/CYP11B2 chimeric form in patients with glucocorticoid-remediable aldosteronism

BACKGROUND: Glucocorticoid-remediable aldosteronism (GRA) is a form of heritable hypertension caused by a chimeric fusion resulting from unequal crossing over between 11β‐hydroxylase (CYP11B1) and aldosterone synthase (CYP11B2), which are two genes with similar sequences. Different crossover pattern...

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Detalles Bibliográficos
Autores principales: Wu, Yu-Ching, Chen, Chia-I, Chen, Peng-Ying, Kuo, Chun-Hung, Hung, Yi-Hsuan, Peng, Kang-Yung, Wu, Vin-Cent, Tsai-Wu, Jyy-Jih, Hsu, Chia-Lang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8750845/
https://www.ncbi.nlm.nih.gov/pubmed/35012455
http://dx.doi.org/10.1186/s12859-022-04561-w