Výsledky vyhledávání - "Alan H Shlossberg"

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

Autor: Bettina Lorenz-Depiereux, Mustapha Amyere, Ursula Müller-Barth, Miikka Vikkula, Stephanie M Kaiser, Janine Wagenstaller, José L. Olivares, Roger S. Rittmaster, Alan H Shlossberg, Klaus Badenhoop, Tim M. Strom, Harald Jüppner, César Loris, Feliciano J. Ramos, Anna Benet-Pagès, Murat Bastepe, Francis H. Glorieux

Publikováno v: Nature Genetics, Vol. 38, no. 11, p. 1248-1250 (2006)

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 matr

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8747576acc94c7999b447cf86f08bfe8
https://pubmed.ncbi.nlm.nih.gov/17395654

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