A novel gain-of-function mutation (F821L) in the transmembrane domain of calcium-sensing receptor is a cause of severe sporadic hypoparathyroidism

Author: Shiohara Masaaki   Mori Tetsuo   Mei Bai   Brown Edward   Watanabe Tomoyuki   Yasuda Toshiyuki  

Publisher: Springer Publishing Company

ISSN: 0340-6199

Source: European Journal of Pediatrics, Vol.163, Iss.2, 2004-02, pp. : 94-98

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