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

Published Online: 2022-01-17

Published Print: 2022-06

Authors

Guan, Chengcheng

Gan, Xinhui

Yang, Chengqing

Yi, Mingji

Zhang, Ying

Liu, Shiguo https://orcid.org/0000-0001-6474-4082
Funding

Funding for this research was provided by:

National Basic Research Program of China (2016YFC1000306)

National Natural Science Foundation of China (30971586)
License Information

Text and Data Mining valid from 2022-01-17

Version of Record valid from 2022-01-17
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Article History

Received: 4 October 2021

Accepted: 13 January 2022

First Online: 17 January 2022

Declarations

:

: The authors declare no competing interests.

: The questionnaire and methodology for this study were approved by the Human Research Ethics committee of The Affiliated Hospital of Qingdao University.

: Written informed consent was obtained from the parents.

: Patients signed informed consent regarding publishing their data and photographs.

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