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Autosomal dominant hypocalcemia caused by a novel mutation in the loop 2 region of the human calcium receptor extracellular domain.
  • J. Hu, S. Mora, +6 authors A. Spiegel
  • Medicine, Biology
  • Journal of bone and mineral research : the…
  • 1 August 2002
We report a novel missense mutation N124K in the extracellular calcium receptor (CaR) identified in two related subjects with the phenotypic features of autosomal dominant hypocalcemia (ADH).Expand
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