Identification of a novel mutation in PEX10 in a patient with attenuated Zellweger spectrum disorder: a case report

BACKGROUND: The peroxisome biogenesis disorders, which are caused by mutations in any of 13 different PEX genes, include the Zellweger spectrum disorders. Severe defects in one of these PEX genes result in the absence of functional peroxisomes which is seen in classical Zellweger syndrome. These pat...

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Detalles Bibliográficos
Autores principales: Blomqvist, Maria, Ahlberg, Karin, Lindgren, Julia, Ferdinandusse, Sacha, Asin-Cayuela, Jorge
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2017
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5547663/
https://www.ncbi.nlm.nih.gov/pubmed/28784167
http://dx.doi.org/10.1186/s13256-017-1365-5

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5547663/
https://www.ncbi.nlm.nih.gov/pubmed/28784167
http://dx.doi.org/10.1186/s13256-017-1365-5

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