Whole-exome sequencing analysis to identify novel potential pathogenetic NPC1 mutations in two Chinese families with Niemann–Pick disease type C

被引：0
|
作者：
Chengcheng Guan
Xinhui Gan
Chengqing Yang
Mingji Yi
Ying Zhang
Shiguo Liu
机构：
[1] The Affiliated Hospital of Qingdao University,Medical Genetic Department
[2] Zaozhuang Maternal and Child Health Hospital,Neonatal Disease Screening Department
[3] The Affiliated Hospital of Qingdao University,Pediatric Neurology Department
[4] The Affiliated Hospital of Qingdao University,Child Healthcare Department
[5] The Affiliated Hospital of Qingdao University,Neuroendocrine Pediatrics Department
来源：
Neurological Sciences | 2022年 / 43卷
关键词：
Niemann–Pick disease type C; Novel NPC1 mutations; Pathogenicity analysis; Two Chinese families;
D O I：
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中图分类号：
学科分类号：
摘要：
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页码：3957 / 3966
页数：9
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