Using Next-Generation Sequencing to Identify a Mutation in Human MCSU that is Responsible for Type II Xanthinuria

Background: Hypouricemia is caused by various diseases and disorders, such as hepatic failure, Fanconi renotubular syndrome, nutritional deficiencies and genetic defects. Genetic defects of the molybdoflavoprotein enzymes induce hypouricemia and xanthinuria. Here, we identified a patient whose plasm...

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Autores principales: Yunan Zhou, Xueguang Zhang, Rui Ding, Zuoxiang Li, Quan Hong, Yan Wang, Wei Zheng, Xiaodong Geng, Meng Fan, Guangyan Cai, Xiangmei Chen, Di Wu
Formato: Artigo
Lenguaje:Inglês
Publicado: Cell Physiol Biochem Press GmbH & Co KG 2015-04-01
Colección:Cellular Physiology and Biochemistry
Materias:
Hypouricemia
Xanthinuria
Human molybdenum cofactor sulfurase (MCSU)
Xanthine dehydrogenase (XDH) and Xanthine oxidase (XOD)
Acceso en línea:http://www.karger.com/Article/FullText/374042
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