Hypoparathyroidism
Absence of calcium-sensing receptor mutations detected in hypoparathyroidism
Published in Immunotherapy Weekly, October 11th, 2006
"SIH is the most common cause of hypoparathyroidism. While CaSR autoantibodies are observed in 49% of cases, aetiopathogenetic mechanisms in others are under investigation," wrote R. Sarin and colleagues, All India Institute of Medical Sciences.
They continued, "Mutations in the PTH gene including its 3' untranslated region, autoimmune regulator gene and lead CTLA-4 gene single nucleotide polymorphism (SNPs) are not associated with the disease. There are reports of de novo activating mutations...
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Source: Immunotherapy Weekly (2006-10-11)
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