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 |