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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...

Πλήρης περιγραφή

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:
Διαθέσιμο Online:https://ncbi.nlm.nih.gov/pmc/articles/PMC1380229/
https://ncbi.nlm.nih.gov/pubmed/16358215
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