Novel Mutations in NPC1 are Associated with Pelizaeus-Merzbacher-Like Disease: A Case Report

Novel Mutations in NPC1 are Associated with Pelizaeus-Merzbacher-Like Disease: A Case Report

Hongling Fu,1,2 Qiu Wang,2,3 Hanmin Liu1,2 1Department of Pediatrics, West China Second University Hospital, Sichuan University, Chengdu, Sichuan, People’s Republic of China; 2Key Laboratory of Birth Defect and Related Diseases of Women and Children (Sichuan University), Ministry of Educat...

Full description

Bibliographic Details
Main Authors: Fu H, Wang Q, Liu H
Format: Article
Language:English
Published: Dove Medical Press 2021-03-01
Series:International Journal of General Medicine
Subjects:
pmld
hypomyelinating leukodystrophy
npc
compound heterozygote mutations
Online Access:https://www.dovepress.com/novel-mutations-in-npc1-are-associated-with-pelizaeus-merzbacher-like--peer-reviewed-article-IJGM

Internet

https://www.dovepress.com/novel-mutations-in-npc1-are-associated-with-pelizaeus-merzbacher-like--peer-reviewed-article-IJGM

Similar Items