A newly identified mutation in the PEX26 gene is associated with a milder form of Zellweger spectrum disorder

Using clinical exome sequencing (ES), we identified an autosomal recessive missense variant, c.153C>A (p.F51L), in the peroxisome biogenesis factor 26 gene (PEX26) in a 19-yr-old female of Ashkenazi Jewish descent who was referred for moderate to severe hearing loss. The proband and three affecte...

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Detalles Bibliográficos
Autores principales: Tanaka, Akemi J., Okumoto, Kanji, Tamura, Shigehiko, Abe, Yuichi, Hirsch, Yoel, Deng, Liyong, Ekstein, Joseph, Chung, Wendy K., Fujiki, Yukio
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory Press 2019
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6371744/
https://www.ncbi.nlm.nih.gov/pubmed/30446579
http://dx.doi.org/10.1101/mcs.a003483

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6371744/
https://www.ncbi.nlm.nih.gov/pubmed/30446579
http://dx.doi.org/10.1101/mcs.a003483

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