DMP1 mutations in autosomal recessive hypophosphatemia implicate a bone matrix protein in the regulation of phosphate homeostasis

Hypophosphatemia is a genetically heterogeneous disease. Here, we mapped an autosomal recessive form (designated ARHP) to chromosome 4q21 and identified homozygous mutations in DMP1 (dentin matrix protein 1), which encodes a non-collagenous bone matrix protein expressed in osteoblasts and osteocytes...

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Publicado no:Nat Genet
Main Authors: Lorenz-Depiereux, Bettina, Bastepe, Murat, Benet-Pagès, Anna, Amyere, Mustapha, Wagenstaller, Janine, Müller-Barth, Ursula, Badenhoop, Klaus, Kaiser, Stephanie M, Rittmaster, Roger S, Shlossberg, Alan H, Olivares, José L, Loris, César, Ramos, Feliciano J, Glorieux, Francis, Vikkula, Miikka, Jüppner, Harald, Strom, Tim M
Formato: Artigo
Idioma:Inglês
Publicado em: 2006
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5942547/
https://ncbi.nlm.nih.gov/pubmed/17033625
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ng1868
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