Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
11026126 | Clinica Chimica Acta | 2018 | 6 Pages |
Abstract
In the present study, homozygous or compound heterozygous HPGD mutations were identified in seven Chinese pediatric patients, suggesting an autosomal recessive inheritance. The c.310_311delCT mutation and the splicing site mutation c.324â¯+â¯5Gâ¯>â¯A were likely to be mutational hotspots in Chinese PHO patients. For the first time, a structural variation of the HPGD gene was reported. Homozygous, compound heterozygous mutations or structural variation identified in the HPGD gene proposed that targeted exome sequencing may be a preferable method for pediatric PHO diagnosis and mutation analysis.
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Authors
Yulin Chen, Guoqiang Li, Yufei Xu, Tingting Yu, Yi Zhang, Niu Li, Ru-en Yao, Yunfang Zhou, Xiumin Wang, Yiping Shen, Lei Yin, Jian Wang,