Literature DB >> 14713216

Genetic heterogeneity in Japanese patients with peroxisome biogenesis disorders and evidence for a founder haplotype for the most common mutation in PEX10 gene.

Nobuyuki Shimozawa1, Tomoko Nagase, Yasuhiko Takemoto, Yasuyuki Suzuki, Naomi Kondo.   

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Year:  2003        PMID： 14713216     DOI： 10.1007/978-1-4419-9072-3_10

Source DB:  PubMed          Journal:  Adv Exp Med Biol        ISSN： 0065-2598            Impact factor:   2.622


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  4 in total

1.  Expanding the spectrum of PEX10-related peroxisomal biogenesis disorders: slowly progressive recessive ataxia.

Authors:  Mathilde Renaud; Claire Guissart; Martial Mallaret; Sacha Ferdinandusse; David Cheillan; Nathalie Drouot; Jean Muller; Mireille Claustres; Christine Tranchant; Mathieu Anheim; Michel Koenig
Journal:  J Neurol       Date:  2016-05-26       Impact factor: 4.849

Review 2.  Child neurology: Zellweger syndrome.

Authors:  Paul R Lee; Gerald V Raymond
Journal:  Neurology       Date:  2013-05-14       Impact factor: 9.910

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

Authors:  Amale Bousfiha; Amina Bakhchane; Hicham Charoute; Zied Riahi; Khalid Snoussi; Hassan Rouba; Crystel Bonnet; Christine Petit; Abdelhamid Barakat
Journal:  Hum Genome Var       Date:  2017-04-13

4.  Peroxisome biogenesis disorders.

Authors:  Catherine Argyriou; Maria Daniela D'Agostino; Nancy Braverman
Journal:  Transl Sci Rare Dis       Date:  2016-11-07
  4 in total

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