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Familial isolated hypoparathyroidism caused by a mutation in the gene for the transcription factor GCMB

Hypoparathyroidism is characterized by hypocalcemia, hyperphosphatemia, and absent or markedly reduced circulating concentrations of parathyroid hormone. The transcription factor GCMB is predominantly, if not exclusively, expressed in parathyroid cells and is critical for development of the parathyr...

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Hlavní autoři: Ding, Changlin, Buckingham, Bruce, Levine, Michael A.
Médium: Artigo
Jazyk:Inglês
Vydáno: American Society for Clinical Investigation 2001
Témata:
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC209530/
https://ncbi.nlm.nih.gov/pubmed/11602629
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