Autosomal dominant hypophosphataemic rickets is associated with mutations in FGF23

Proper serum phosphate concentrations are maintained by a complex and poorly understood process. Identification of genes responsible for inherited disorders involving disturbances in phosphate homeostasis may provide insight into the pathways that regulate phosphate balance. Several hereditary disor...

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Veröffentlicht in:	Nature genetics 2000-11, Vol.26 (3), p.345-348
Hauptverfasser:	Econs, Michael J, Strom, Tim M, White, Kenneth E, Evans, Wayne E, O'Riordan, Jeffery L.H, Speer, Marcy C, Lorenz-Depiereux, Bettina, Grabowski, Monika, Meitinger, Thomas
Format:	Artikel
Sprache:	eng
Schlagworte:	Abnormalities, Multiple - genetics Agriculture Amino Acid Sequence Animal Genetics and Genomics Biological and medical sciences Biomedical and Life Sciences Biomedicine Cancer Research Care and treatment Chromosomes, Human, Pair 12 - genetics Cloning DNA Mutational Analysis Errors of metabolism Europe Female FGF23 gene Fibroblast Growth Factors - deficiency Fibroblast Growth Factors - genetics Fibroblast Growth Factors - physiology Gene Function Gene mutations Genes Genes, Dominant Genetic aspects Genetic Heterogeneity Human Genetics Humans Hypophosphatemia Hypophosphatemia, Familial - genetics Identification and classification letter Lod Score Male Medical sciences Metabolic diseases Miscellaneous hereditary metabolic disorders Molecular Sequence Data Mutation Pedigree PHEX gene Point Mutation Polymerase chain reaction Reverse Transcriptase Polymerase Chain Reaction Rickets Risk factors Segregation Sequence Alignment Sequence Homology, Amino Acid United States
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