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

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 heterogeneous...

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Detalles Bibliográficos
Autores principales: Tian, Yuan, Zhang, Linlin, Li, Ying, Gao, Jinshuang, Yu, Haiyang, Guo, Yaqing, Jia, Liting
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2019
Materias:
Clinical Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6978261/
https://www.ncbi.nlm.nih.gov/pubmed/31724321
http://dx.doi.org/10.1002/mgg3.1042

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6978261/
https://www.ncbi.nlm.nih.gov/pubmed/31724321
http://dx.doi.org/10.1002/mgg3.1042

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