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A novel mutation in Ca2+-sensing receptor gene in familial hypocalciuric hypercalcemia

✍ Scribed by Tomohiro Nakayama; Michiyoshi Minato; Makio Nakagawa; Masayoshi Soma; Hideko Tobe; Noriko Aoi; Kotoko Kosuge; Mikano Sato; Yukio Ozawa; Katsuo Kanmatsuse; Shinichiro Kokubun


Book ID
111637690
Publisher
Springer
Year
2001
Tongue
English
Weight
160 KB
Volume
15
Category
Article
ISSN
0969-711X

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We studied family members of a large kindred expressing both familial hypocalciuric hypercalcemia (FHH) and neonatal severe hyperparathyroidism (NSHPT) and found, by PCR amplification of the extracellular calcium-sensing receptor (CASR) gene exons and flanking intronic sequences, that FHH individual