一个患有家族性淀粉样多神经病的土耳其家族中甲状腺素运载蛋白基因met30的纯合性。
Homozygosity for the met30 transthyretin gene in a Turkish kindred with familial amyloidotic polyneuropathy.
作者信息
Skare J, Yazici H, Erken E, Dede H, Cohen A, Milunsky A, Skinner M
机构信息
Center for Human Genetics, Boston University School of Medicine, MA 02118.
出版信息
Hum Genet. 1990 Nov;86(1):89-90. doi: 10.1007/BF00205182.
PMID:2174830
Abstract
A Turkish family is described with two members suffering from familial amyloidotic polyneuropathy. Their transthyretin genes were examined using the polymerase chain reaction, and both patients possessed the met30 mutation in both of their transthyretin genes. In this family, only individuals who are homozygous for the met30 mutation have developed symptoms.
摘要
本文描述了一个土耳其家庭，其中两名成员患有家族性淀粉样多神经病。使用聚合酶链反应检测了他们的转甲状腺素蛋白基因，两名患者的转甲状腺素蛋白基因均存在met30突变。在这个家族中，只有met30突变纯合子个体出现了症状。
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