ABCA4 Gene Screening in a Chinese Cohort With Stargardt Disease: Identification of 37 Novel Variants

ABCA4 Gene Screening in a Chinese Cohort With Stargardt Disease: Identification of 37 Novel Variants

Purpose: To clarify the mutation spectrum and frequency of ABCA4 in a Chinese cohort with Stargardt disease (STGD1).Methods: A total of 153 subjects, comprising 25 families (25 probands and their family members) and 71 sporadic cases, were recruited for the analysis of ABCA4 variants. All probands w...

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Bibliographic Details
Main Authors: Fang-Yuan Hu, Jian-kang Li, Feng-Juan Gao, Yu-He Qi, Ping Xu, Yong-Jin Zhang, Dan-Dan Wang, Lu-Sheng Wang, Wei Li, Min Wang, Fang Chen, Si-Mai Shen, Ge-Zhi Xu, Sheng-Hai Zhang, Qing Chang, Ji-Hong Wu
Format: Article
Language:English
Published: Frontiers Media S.A. 2019-09-01
Series:Frontiers in Genetics
Subjects:
STGD1
next-generation sequencing
ABCA4 gene
mutation spectrum
variant frequency
Online Access:https://www.frontiersin.org/article/10.3389/fgene.2019.00773/full

Internet

https://www.frontiersin.org/article/10.3389/fgene.2019.00773/full

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