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The Study on the Clinical Phenotype and Function of HPRT1 Gene

Background: Lesch-Nyhan disease (LND) is a rare x-linked purine metabolic neurogenetic disease caused by enzyme hypoxanthine-guanine phosphoriribosyltransferase(HGprt) deficiency, also known as self-destructive appearance syndrome. A series of manifestations are caused by abnormal purine metabolism....

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Detalles Bibliográficos
Autores principales:	Guo, Miao, Chen, Yucai, Lin, Longlong, Wang, Yilin, Wang, Anqi, Yuan, Fang, Wang, Chunmei, Wang, Simei, Zhang, Yuanfeng
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	SAGE Publications 2022
Materias:	Original Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9305801/ https://www.ncbi.nlm.nih.gov/pubmed/35875183 http://dx.doi.org/10.1177/2329048X221108821

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