Study Links New Mutations in Non-coding Regions to Hypoparathyroidism

Study Links New Mutations in Non-coding Regions to Hypoparathyroidism

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Study Links New Mutations in Non-coding Regions to Hypoparathyroidism

Some mutations in non-coding regions of the calcium-sensing receptor (CASR) gene change the function of the resulting protein and are associated with hypoparathyroidism, a study suggests. While mutations in non-coding regions — DNA sections that do not provide instructions to produce a protein — do not directly alter the composition of a protein, they may still affect regulatory elements involved in protein production or assembly. Seven new mutations in the CASR gene, five located in…

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