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Acute intermittent porphyria: prevalence of pathogenic HMBS variants in China, and epidemiological survey in Hebei Province, China

BACKGROUND: Acute intermittent porphyria (AIP) is a rare inherited disorder with extremely low prevalence. Early detection of patients with potential pathogenic hydroxymethylbilane synthase (HMBS) variants is crucial for clinical prognosis. This study was designed to investigate the prevalence of pa...

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Detalles Bibliográficos
Autores principales:	Ma, Liyan, Tian, Yu, Qi, Xuan, Li, Pei, Li, Jie, Teng, Qing, Ma, Yuelin, Zhang, Songyun
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	AME Publishing Company 2022
Materias:	Original Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9201126/ https://www.ncbi.nlm.nih.gov/pubmed/35722412 http://dx.doi.org/10.21037/atm-22-1600

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