两个德裔美国家庭中的淀粉样多神经病：一种新的转甲状腺素蛋白变体（Val 107）
Amyloid polyneuropathy in two German-American families: a new transthyretin variant (Val 107).
作者信息
Uemichi T, Gertz M A, Benson M D
机构信息
Department of Medicine, Indiana University School of Medicine, Indianapolis 46202.
出版信息
J Med Genet. 1994 May;31(5):416-7. doi: 10.1136/jmg.31.5.416.
Abstract
We report studies on two German-American persons with systemic amyloidosis. Affected subjects presented with carpal tunnel syndrome in the sixth decade of life followed by peripheral neuropathy. DNA analysis of the transthyretin gene showed a new point mutation which is responsible for substitution of valine for isoleucine at position 107 of the transthyretin molecule.
摘要
我们报告了对两名患有系统性淀粉样变性的德裔美国人的研究。受影响的受试者在60岁时出现腕管综合征，随后出现周围神经病变。转甲状腺素蛋白基因的DNA分析显示了一个新的点突变，该突变导致转甲状腺素蛋白分子第107位的异亮氨酸被缬氨酸取代。
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