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Journal Abstract Search

293 related items for PubMed ID: 10862081

  • 1. Phenotype-genotype relationships in PEX10-deficient peroxisome biogenesis disorder patients.
    Warren DS, Wolfe BD, Gould SJ.
    Hum Mutat; 2000; 15(6):509-21. PubMed ID: 10862081
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  • 2. Identification of PEX10, the gene defective in complementation group 7 of the peroxisome-biogenesis disorders.
    Warren DS, Morrell JC, Moser HW, Valle D, Gould SJ.
    Am J Hum Genet; 1998 Aug; 63(2):347-59. PubMed ID: 9683594
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  • 4. Novel mutations in the PEX12 gene of patients with a peroxisome biogenesis disorder.
    Gootjes J, Schmohl F, Waterham HR, Wanders RJ.
    Eur J Hum Genet; 2004 Feb; 12(2):115-20. PubMed ID: 14571262
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  • 5. Genotype-phenotype correlation in PEX5-deficient peroxisome biogenesis defective cell lines.
    Ebberink MS, Mooyer PA, Koster J, Dekker CJ, Eyskens FJ, Dionisi-Vici C, Clayton PT, Barth PG, Wanders RJ, Waterham HR.
    Hum Mutat; 2009 Jan; 30(1):93-8. PubMed ID: 18712838
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  • 6. Identification of novel mutations in PEX2, PEX6, PEX10, PEX12, and PEX13 in Zellweger spectrum patients.
    Krause C, Rosewich H, Thanos M, Gärtner J.
    Hum Mutat; 2006 Nov; 27(11):1157. PubMed ID: 17041890
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  • 7. Human PEX1 is mutated in complementation group 1 of the peroxisome biogenesis disorders.
    Portsteffen H, Beyer A, Becker E, Epplen C, Pawlak A, Kunau WH, Dodt G.
    Nat Genet; 1997 Dec; 17(4):449-52. PubMed ID: 9398848
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  • 8. Identification of a new complementation group of the peroxisome biogenesis disorders and PEX14 as the mutated gene.
    Shimozawa N, Tsukamoto T, Nagase T, Takemoto Y, Koyama N, Suzuki Y, Komori M, Osumi T, Jeannette G, Wanders RJ, Kondo N.
    Hum Mutat; 2004 Jun; 23(6):552-8. PubMed ID: 15146459
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  • 9. Isolation of the human PEX12 gene, mutated in group 3 of the peroxisome biogenesis disorders.
    Chang CC, Lee WH, Moser H, Valle D, Gould SJ.
    Nat Genet; 1997 Apr; 15(4):385-8. PubMed ID: 9090384
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  • 10. Genomic structure of PEX13, a candidate peroxisome biogenesis disorder gene.
    Björkman J, Stetten G, Moore CS, Gould SJ, Crane DI.
    Genomics; 1998 Dec 15; 54(3):521-8. PubMed ID: 9878256
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  • 11. Mutations in PEX1 are the most common cause of peroxisome biogenesis disorders.
    Reuber BE, Germain-Lee E, Collins CS, Morrell JC, Ameritunga R, Moser HW, Valle D, Gould SJ.
    Nat Genet; 1997 Dec 15; 17(4):445-8. PubMed ID: 9398847
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  • 14. The PEX Gene Screen: molecular diagnosis of peroxisome biogenesis disorders in the Zellweger syndrome spectrum.
    Steinberg S, Chen L, Wei L, Moser A, Moser H, Cutting G, Braverman N.
    Mol Genet Metab; 2004 Nov 15; 83(3):252-63. PubMed ID: 15542397
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  • 15. Genetic heterogeneity of peroxisome biogenesis disorders among Japanese patients: evidence for a founder haplotype for the most common PEX10 gene mutation.
    Shimozawa N, Nagase T, Takemoto Y, Ohura T, Suzuki Y, Kondo N.
    Am J Med Genet A; 2003 Jul 01; 120A(1):40-3. PubMed ID: 12794690
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  • 17. Genetic and clinical aspects of Zellweger spectrum patients with PEX1 mutations.
    Rosewich H, Ohlenbusch A, Gärtner J.
    J Med Genet; 2005 Sep 01; 42(9):e58. PubMed ID: 16141001
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  • 19. Novel mutations in the PEX2 gene of four unrelated patients with a peroxisome biogenesis disorder.
    Gootjes J, Elpeleg O, Eyskens F, Mandel H, Mitanchez D, Shimozawa N, Suzuki Y, Waterham HR, Wanders RJ.
    Pediatr Res; 2004 Mar 01; 55(3):431-6. PubMed ID: 14630978
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