A novel gain-of-function mutation (F821L) in the...

European Journal of Pediatrics 2004 / 02 Vol. 163; Iss. 2

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

Masaaki Shiohara, Tetsuo Mori, Bai Mei, EdwardM. Brown, Tomoyuki Watanabe, Toshiyuki Yasuda
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Volume:
163
Language:
english
Pages:
5
DOI:
10.1007/s00431-003-1331-7
Date:
February, 2004
File:
PDF, 269 KB
english, 2004
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