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

Abstract : 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. This variation is located in the P-loop containing nucleoside triphosphate hydrolase of protein domain and probably causes an alteration in the hydrolysis of ATP.
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https://hal-pasteur.archives-ouvertes.fr/pasteur-03219646
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Submitted on : Thursday, May 6, 2021 - 3:30:39 PM
Last modification on : Tuesday, October 19, 2021 - 10:29:28 PM
Long-term archiving on: : Saturday, August 7, 2021 - 7:17:04 PM

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Amale Bousfiha, Amina Bakhchane, Hicham Charoute, Zied Riahi, Khalid Snoussi, et al.. A novel PEX1 mutation in a Moroccan family with Zellweger spectrum disorders. Human Genome Variation, Nature Publishing Group, 2017, 4 (1), pp.17009. ⟨10.1038/hgv.2017.9⟩. ⟨pasteur-03219646⟩

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