Disruption of PIKFYVE causes congenital cataract in human and zebrafish

Disruption of PIKFYVE causes congenital cataract in human and zebrafish

Congenital cataract, an ocular disease predominantly occurring within the first decade of life, is one of the leading causes of blindness in children. However, the molecular mechanisms underlying the pathogenesis of congenital cataract remain incompletely defined. Through whole-exome sequencing of a...

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Bibliographic Details
Main Authors: Shaoyi Mei, Yi Wu, Yan Wang, Yubo Cui, Miao Zhang, Tong Zhang, Xiaosheng Huang, Sejie Yu, Tao Yu, Jun Zhao
Format: Article
Language:English
Published: eLife Sciences Publications Ltd 2022-01-01
Series:eLife
Subjects:
PIKFYVE
congenital cataract
gene
mutation
endosome
Baf-A1
Online Access:https://elifesciences.org/articles/71256

Internet

https://elifesciences.org/articles/71256

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