SLC34A3 Intronic Deletion in a New Kindred with Hereditary Hypophosphatemic Rickets with Hypercalciuria

Objective: Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) is an autosomal recessive form of hypophosphatemia with hyperphosphaturia, hypercalciuria, and hypercalcemia. In two reports on six affected kindreds with HHRH, the disease was mapped to chromosome 9q34, which contains the SLC...

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Hauptverfasser: Hasani-Ranjbar, Shirin, Amoli, Mahsa M., Ebrahim-Habibi, Azadeh, Dehghan, Ehsan, Soltani, Akbar, Amiri, Parvin, Larijani, Bagher
Format: Artigo
Sprache:Inglês
Veröffentlicht: Galenos Publishing 2012
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Original Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3386779/
https://ncbi.nlm.nih.gov/pubmed/22672866
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4274/jcrpe.601
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