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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Bibliografiska uppgifter
Huvudupphovsmän: Hasani-Ranjbar, Shirin, Amoli, Mahsa M., Ebrahim-Habibi, Azadeh, Dehghan, Ehsan, Soltani, Akbar, Amiri, Parvin, Larijani, Bagher
Materialtyp: Artigo
Språk:Inglês
Publicerad: Galenos Publishing 2012
Ämnen:
Original Article
Länkar: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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