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Yah-Huei Wu Chou
Researcher at Howard Hughes Medical Institute
Publications - 1
Citations - 997
Yah-Huei Wu Chou is an academic researcher from Howard Hughes Medical Institute. The author has contributed to research in topics: Calcium-sensing receptor & Receptor. The author has an hindex of 1, co-authored 1 publications receiving 977 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,Steven C. Hebert,Stephen J. Marx,Beat Stelnmann,Tatjana Levi,Christine E. Seidman,Jon G. Seidman +8 more
TL;DR: It is demonstrated that mutations in the human Ca(2+)-sensing receptor gene cause familial hypocalciuric hypercalcemia (FHH) and neonatal severe hyperparathyroidism (NSHPT), two inherited conditions characterized by altered calcium homeostasis.