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DMP1 mutations in autosomal recessive hypophosphatemia implicate a bone matrix protein in the regulation of phosphate homeostasis
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- 182.52 K
Document type | Article de périodique (Journal article) – Article de recherche |
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Access type | Accès libre |
Publication date | 2006 |
Journal information | "Nature Genetics" - Vol. 38, no. 11, p. 1248-1250 (2006) |
Peer reviewed | yes |
Publisher | Nature Publishing Group (New York) |
issn | 1061-4036 |
e-issn | 1546-1718 |
Publication status | Publié |
Affiliations |
UCL
- MD/BICL - Département de biochimie et de biologie cellulaire UCL - (SLuc) Centre de malformations vasculaires congénitales UCL - (SLuc) Centre de génétique médicale UCL |
MESH Subject | Adolescent ; Adult ; Bone Matrix - metabolism ; Child ; Extracellular Matrix Proteins - genetics - metabolism - physiology ; Fibroblast Growth Factors - genetics - metabolism ; Homeostasis ; Humans ; Hypophosphatemia - genetics ; Infant ; Mutation ; PHEX Phosphate Regulating Neutral Endopeptidase - genetics - metabolism ; Pedigree ; Phosphates - metabolism ; Phosphoproteins - genetics - metabolism - physiology |
Links |
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- BOILEAU Guy, TENENHOUSE Harriet S., DesGROSEILLERS Luc, CRINE Philippe, Characterization of PHEX endopeptidase catalytic activity: identification of parathyroid-hormone-related peptide107–139 as a substrate and osteocalcin, PPi and phosphate as inhibitors, 10.1042/bj3550707
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Bibliographic reference | Lorenz-Depiereux, Bettina ; Bastepe, Murat ; Benet-Pagès, Anna ; Amyere, Mustapha ; Wagenstaller, Janine ; et. al. DMP1 mutations in autosomal recessive hypophosphatemia implicate a bone matrix protein in the regulation of phosphate homeostasis. In: Nature Genetics, Vol. 38, no. 11, p. 1248-1250 (2006) |
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Permanent URL | http://hdl.handle.net/2078.1/27097 |