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Small Duplication of HPRT 1 Gene May Be Causative For Lesh-Nyhan Disease in Iranian Patients

Deficiency of hypoxanthine-guanine phosphoribosyltransferase (HGPRT) is a rare inborn error of purine metabolism and is characterized by uric acid overproduction along with a variety of neurological manifestations that depend on a degree of the enzymatic deficiency. Inheritance of HPRT deficiency is...

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Detalles Bibliográficos
Autores principales:	BOROUJERDI, Razieh, SHARIATI, Mohsen, NADDAFNIA, Hosein, REZAEI, Hojatolah
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Shahid Beheshti University of Medical Sciences 2015
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4322507/ https://www.ncbi.nlm.nih.gov/pubmed/25767547

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