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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Detalhes bibliográficos
Main Authors: Hasani-Ranjbar, Shirin, Amoli, Mahsa M., Ebrahim-Habibi, Azadeh, Dehghan, Ehsan, Soltani, Akbar, Amiri, Parvin, Larijani, Bagher
Formato: Artigo
Idioma:Inglês
Publicado em: Galenos Publishing 2012
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Original Article
Acesso em linha: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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