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Mutation watch: PEX PLUS? gene(s) for X-linked hypophosphatemia and deafness

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References

  • del Castillo I, Villamar M, Sarduy M, Romero L, Herraiz C, Hernandez FJ, Rodriguez M, Borras I, Montera A, Bellon J, Tapia MC, Moreno F (1996) A novel locus for non-syndromic sensorineural deafness (DFN6) maps to chromosome Xp22. Hum Mol Genet 5, 1383–1387

    Article  PubMed  Google Scholar 

  • Du L, Desbarats M, Viel J, Glorieux FH, Cawthorn C, Ecarot B (1996) cDNA cloning of the murine Pex gene implicated in X-linked hypophosphatemia and evidence for expression in bone. Genomics 36, 22–28

    Article  PubMed  CAS  Google Scholar 

  • Eicher EM, Southard JL, Scriver CR, Glorieux GH (1976) Hypophosphatemia: mouse model for human familial hypophospathemic (vitamin D-resistant) rickets. Proc Natl Acad Sci USA 73, 4667–4671

    Article  PubMed  CAS  Google Scholar 

  • HYP Consortium (1995) A gene (PEX) with homologies to endopeptidases is mutated in patients with X-linked hypophosphatemic rickets. Nature Genet 11, 130–136

    Article  Google Scholar 

  • Lyon MF, Scriver CR, Baker LRI, Tenenhouse HS, Kronick J, Mandla S (1986) The Gy mutation: another cause of X-linked hypophosphatemia in mouse. Proc Natl Acad Sci USA 83, 4899–4903

    Article  PubMed  CAS  Google Scholar 

  • Rowe PSN, Goulding JN, Francis F, Oudet C, Econs MJ, Hanauer A, Lehrach H, Read AP, Mountford RC, Summerfield T, Weissenbach J, Fraser W, Drezner MK, Davies KE, O’Riordan JLH (1996) The gene for X-linked hypophosphatemic rickets maps to a 200–300 kb region in Xp22.1, and is located on a single YAC containing a putative vitamin D response element (VDRE). Hum Genet 97, 345–352

    Article  PubMed  CAS  Google Scholar 

  • Steel KP (1995) Inherited hearing defects in mice. Annu Rev Genet 29, 675–701

    Article  PubMed  CAS  Google Scholar 

  • Strom TM, Francis F, Lorenz B, Böddrich A, Econs MJ, Lehrach H, Meitinger T (1997) Pex gene deletions in Gy and Hyp mice provide mouse models for X-linked hypophosphatemia. Hum Mol Genet 6, 165–171

    Article  PubMed  CAS  Google Scholar 

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  1. Department of Human Genetics, University of Michigan, 4708 Medical Science II, 48109-0618, Ann Arbor, Michigan, USA

    Miriam Meisler

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  1. Miriam Meisler
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Meisler, M. Mutation watch: PEX PLUS? gene(s) for X-linked hypophosphatemia and deafness. Mammalian Genome 8, 543–544 (1997). https://doi.org/10.1007/s003359900499

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  • DOI: https://doi.org/10.1007/s003359900499

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