亚洲姐妹中的生长调节素C缺乏症。
Somatomedin C deficiency in Asian sisters.
作者信息
McGraw M E, Price D A, Hill D J
出版信息
Arch Dis Child. 1986 Dec;61(12):1233-5. doi: 10.1136/adc.61.12.1233.
Abstract
Two sisters of Asian origin showed typical clinical and biochemical features of primary somatomedin C (SM-C) deficiency (Laron dwarfism). Abnormalities of SM-C binding proteins were observed, one sister lacking the high molecular weight (150 Kd) protein.
摘要
两名亚裔姐妹表现出原发性生长调节素C（SM-C）缺乏症（拉伦侏儒症）的典型临床和生化特征。观察到SM-C结合蛋白异常，其中一名姐妹缺乏高分子量（150千道尔顿）蛋白。
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