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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Detalles Bibliográficos
Autores principales: Hasani-Ranjbar, Shirin, Amoli, Mahsa M., Ebrahim-Habibi, Azadeh, Dehghan, Ehsan, Soltani, Akbar, Amiri, Parvin, Larijani, Bagher
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Galenos Publishing 2012
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3386779/
https://www.ncbi.nlm.nih.gov/pubmed/22672866
http://dx.doi.org/10.4274/jcrpe.601

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3386779/
https://www.ncbi.nlm.nih.gov/pubmed/22672866
http://dx.doi.org/10.4274/jcrpe.601

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