The parathyroid glands and parathyroid hormone: Insights from PTH gene mutations.

Abstract excerpt

Nine mutations have been discovered in the parathyroid hormone (PTH) gene since it was initially sequenced in 1983. An autosomal dominant C18R mutation in the signal peptide was first reported in 1990, followed by an exon skipping mutation, leading to loss of exon 2 in 1992; the latter mutation prevents PTH biosynthesis, as exon 2 contains the initiation codon. The S23P and S23X mutations affecting the same...

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