A novel PEX1 mutation in a Moroccan family with Zellweger spectrum disorders

Mutations in the PEX1 gene are usually associated with recessive inherited diseases including Zellweger spectrum disorders. In this work, we identified a new pathogenic missense homozygous PEX1 mutation (p.Leu1026Pro, c.3077T>C) in two Moroccan syndromic deaf siblings from consanguineous parents....

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Detalles Bibliográficos
Autores principales: Bousfiha, Amale, Bakhchane, Amina, Charoute, Hicham, Riahi, Zied, Snoussi, Khalid, Rouba, Hassan, Bonnet, Crystel, Petit, Christine, Barakat, Abdelhamid
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2017
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5390255/
https://www.ncbi.nlm.nih.gov/pubmed/28446956
http://dx.doi.org/10.1038/hgv.2017.9

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5390255/
https://www.ncbi.nlm.nih.gov/pubmed/28446956
http://dx.doi.org/10.1038/hgv.2017.9

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