KEGG   VARIANT: 1758v1
Entry
1758v1                      Variant                                
Name
DMP1 mutation
Type
Loss of function
Gene
DMP1  dentin matrix acidic phosphoprotein 1 [KO:K23328]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 600980
Network
nt06548  Integrin signaling
Disease
H00214  Hypophosphatemic rickets
H02139  Autosomal recessive hypophosphatemic rickets
Reference
PMID:17033625
  Authors
Lorenz-Depiereux B, Bastepe M, Benet-Pages A, Amyere M, Wagenstaller J, Muller-Barth U, Badenhoop K, Kaiser SM, Rittmaster RS, Shlossberg AH, Olivares JL, Loris C, Ramos FJ, Glorieux F, Vikkula M, Juppner H, Strom TM
  Title
DMP1 mutations in autosomal recessive hypophosphatemia implicate a bone matrix protein in the regulation of phosphate homeostasis.
  Journal
Nat Genet 38:1248-50 (2006)
DOI:10.1038/ng1868
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