Novel compound heterozygous mutations in the PEX1 gene in...

Clinica Chimica Acta 2017 / 07 Vol. 470

Novel compound heterozygous mutations in the PEX1 gene in two Chinese newborns with Zellweger syndrome based on whole exome sequencing

Ge, Meng-Meng, Hu, LiYuan, Li, ZhiHua, Cheng, GuoQiang, Yan, Kai, Kong, YanTing, Wang, HuiJun, Yang, Lin, Zhou, WenHao
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Volume:
470
Language:
english
Journal:
Clinica Chimica Acta
DOI:
10.1016/j.cca.2017.04.016
Date:
July, 2017
File:
PDF, 775 KB
english, 2017
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