A
Arnqvist Hj
Researcher at Linköping University
Publications - 2
Citations - 272
Arnqvist Hj is an academic researcher from Linköping University. The author has contributed to research in topics: Familial hypocalciuric hypercalcemia & Gene. The author has an hindex of 2, co-authored 2 publications receiving 270 citations.
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The gene responsible for familial hypocalciuric hypercalcemia maps to chromosome 3q in four unrelated families.
Y.-H. Chou,Edward M. Brown,Tatjana Levi,G. Crowe,Atkinson Ab,Arnqvist Hj,Toss G,Ghada El-Hajj Fuleihan,Jonathan G. Seidman,Christine E. Seidman +9 more
TL;DR: It is suggested that the causal gene is important for maintenance of extracellular calcium homeostasis by the parathyroid gland and kidney and that identification of the FHH gene will improve understanding of the molecular basis for physiologic and pathologic regulation of calcium.
Journal Article
Mutations in the human Ca(2+)-sensing-receptor gene that cause familial hypocalciuric hypercalcemia.
Y H Chou,Martin R. Pollak,M. L. Brandi,Toss G,Arnqvist Hj,Atkinson Ab,Socrates E. Papapoulos,S. J. Marx,Edward M. Brown,Jonathan G. Seidman +9 more
TL;DR: Five novel mutations in the human Ca(2+)-sensing-receptor gene that cause familial hypocalciuric hypercalcemia (FHH) or neonatal severe hyperparathyroidism are reported and it is suggested that there are a wide range of mutations that cause FHH.