Concepedia

A Novel Mutation in Ca<sup>2+</sup> -Sensing Receptor Gene in Familial Hypocalciuric Hypercalcemia

Tomohiro Nakayama, Michiyoshi Minato, Makio Nakagawa, Masayoshi Soma, Hideko Tobe, Noriko Aoi, Kotoko Kosuge, Mikano Sato, Yukio Ozawa, Katsuo Kanmatsuse,

Endocrine · 2001 · 14 citations · 33 references

DOI

Concepts

References

33

Cloning and characterization of an extracellular Ca2+-sensing receptor from bovine parathyroid

Edward M. Brown, Gerardo Gamba, Daniela Riccardi et al. · Nature · 1993 · 2.6K citations

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Mutations in the human Ca2+-sensing receptor gene cause familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism

Martin R. Pollak, Edward M. Brown, Yah‐Huei Wu Chou et al. · Cell · 1993 · 1.1K citations

, , +16

A Familial Syndrome of Hypocalcemia with Hypercalciuria Due to Mutations in the Calcium-Sensing Receptor

Simon H. S. Pearce, Catherine Williamson, Olga Kifor et al. · New England Journal of Medicine · 1996 · 632 citations · Full text

, , +17

Autosomal dominant hypocalcaemia caused by a Ca2+-sensing receptor gene mutation

Martin R. Pollak, Edward M. Brown, Herschel L. Estep et al. · Nature Genetics · 1994 · 599 citations

, , +14

The Hypocalciuric or Benign Variant of Familial Hypercalcemia: Clinical and Biochemical Features in Fifteen Kindreds

Stephen J. Marx, Maurice F. Attie, Michael A. Levine et al. · Medicine · 1981 · 394 citations

, , +6