Mutational analysis of PHEX, FGF23 and DMP1 in a cohort of patients with hypophosphatemic rickets

Summary Background X‐linked hypophosphatemic rickets, autosomal dominant hypophosphatemic rickets and autosomal recessive hypophosphatemic rickets make up a group of renal phosphate wasting disorders with common clinical and biochemical characteristics. These three types of rickets are related to m...

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Veröffentlicht in:	Clinical endocrinology (Oxford) 2011-03, Vol.74 (3), p.312-318
Hauptverfasser:	Ruppe, Mary D., Brosnan, Patrick G., Au, Kit Sing, Tran, Phong X., Dominguez, Barbara W., Northrup, Hope
Format:	Artikel
Sprache:	eng
Schlagworte:	Biochemical characteristics Biological and medical sciences Cohort Studies Data processing Dmp1 protein DNA Mutational Analysis Endocrinopathies Extracellular Matrix Proteins - genetics Familial Hypophosphatemic Rickets - diagnosis Familial Hypophosphatemic Rickets - genetics Family Health Female Fibroblast growth factor 23 Fibroblast Growth Factors - genetics Fundamental and applied biological sciences. Psychology Genetic Diseases, X-Linked Genetic diversity Genetic Testing Humans Hypophosphatemia Kidney Male Medical sciences Miscellaneous Mutation Mutation, Missense PHEX Phosphate Regulating Neutral Endopeptidase - genetics Phosphate Phosphoproteins - genetics Polymorphism, Single Nucleotide Public health. Hygiene Public health. Hygiene-occupational medicine Rickets Vertebrates: endocrinology X chromosome
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