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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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| Publicado no: | Cold Spring Harb Mol Case Stud |
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| Main Authors: | , , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Cold Spring Harbor Laboratory Press
2019
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6371744/ https://ncbi.nlm.nih.gov/pubmed/30446579 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1101/mcs.a003483 |
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