Accession PRJCA002159
Title Gene mutations of Xanthinuria
Relevance Medical
Data types Whole genome sequencing
Exome
Organisms Homo sapiens
Description Xanthinuria is a rare genetic metabolic disorder, the biochemical mechanism of xanthinuria is the disturbance of purine to uric acid metabolism due to the deficiency of xanthine dehydrogenase/xanthine oxidase (XDH/XO) and aldehyde oxidase 1 (AOX1). We present the fast Q files from the whole exome sequencing (WES) of a patient with xanthinuria diagnosed by clinical and biochemical techniques.
Sample scope Human peripheral blood
Release date 2020-01-21
Publication
PubMed ID Article title Journal name DOI Year
32067994 A novel mutation in xanthine dehydrogenase in a case with xanthinuria in Hunan province of China Clinica Chimica Acta 10.1016/j.cca.2020.02.012 2020
Grants
Agency program Grant ID Grant title
National Natural Science Foundation of China (NSFC) Young Scientists Fund 81703917
Submitter Ping    Li  (lipingxt@163.com)
Organization the first affiliated hospital, Hunan University of Chinese Medicine
Submission date 2020-01-21

Project Data

Resource name Description