Variant analysis of PEX11B gene from a family with peroxisome biogenesis disorder 14B by whole exome sequencing

Variant analysis of PEX11B gene from a family with peroxisome biogenesis disorder 14B by whole exome sequencing

Abstract Background Peroxisome biogenesis disorder 14B (PBD14B) is an autosomal recessive peroxisome biogenesis disorder characterized clinically by mild intellectual disability, congenital cataracts, progressive hearing loss, and polyneuropathy peroxisome biogenesis disorders are genetically hetero...

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Bibliographic Details
Main Authors: Yuan Tian, Linlin Zhang, Ying Li, Jinshuang Gao, Haiyang Yu, Yaqing Guo, Liting Jia
Format: Article
Language:English
Published: Wiley 2020-01-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
peroxisome biogenesis disorder 14B
PEX11B gene
variant analysis
whole exome sequencing
Online Access:https://doi.org/10.1002/mgg3.1042

Internet

https://doi.org/10.1002/mgg3.1042

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