Hereditary Hypophosphatemic Rickets with Hypercalciuria Is Caused by Mutations in the Sodium-Phosphate Cotransporter Gene SLC34A3

Hypophosphatemia due to isolated renal phosphate wasting results from a heterogeneous group of disorders. Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) is an autosomal recessive form that is characterized by reduced renal phosphate reabsorption, hypophosphatemia, and rickets. It can...

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Αποθηκεύτηκε σε:
Λεπτομέρειες βιβλιογραφικής εγγραφής
Κύριοι συγγραφείς: Lorenz-Depiereux, Bettina, Benet-Pages, Anna, Eckstein, Gertrud, Tenenbaum-Rakover, Yardena, Wagenstaller, Janine, Tiosano, Dov, Gershoni-Baruch, Ruth, Albers, Norbert, Lichtner, Peter, Schnabel, Dirk, Hochberg, Ze’ev, Strom, Tim M.
Μορφή: Artigo
Γλώσσα:Inglês
Έκδοση: The American Society of Human Genetics 2006
Θέματα:
Articles
Διαθέσιμο Online:https://ncbi.nlm.nih.gov/pmc/articles/PMC1380229/
https://ncbi.nlm.nih.gov/pubmed/16358215
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