H714Q mutation in Wilson dia is associated with late, neurological prentation.
期刊名称： Journal of Medical Genetics
作者： Houwen, R H,Juyn, J,Hoogenraad, T U,Ploos van Amstel, J K,Berger, R 年份： 1995年
期号： 第6期
关键词： CHROMOSOME MICRODISSECTION;MICROSATELLITE;LINKAGE MAP
摘要：Wilson dia is an autosomal recessive copper storage dia resulting from an inability of the liver to excrete copper. Patients can prent at猫咪简笔画
a young age, generally with symptoms of liver copper intoxication, or later on, generally with neurological symptoms. The gene for Wilson dia has recently been cloned. Five mutations have been described so far, but only one is found frequently, H714Q. We analyd 38 Dutch symptomatic Wilson dia patients for the H714Q mutation and correlated this finding with age and symptoms at prenta如何办理进出口权
tion. Ten patients homozygous for the H714Q mutation prented at a mean age of 20.3 (SD 6.1) years, with either neurological 海里的恐龙
symptoms or
a Kayr-Fleischer ring. Six patients with a H714Q mutat毛笔字握笔姿势
ion i春天的作文
n one ch公子病
romosome and an unknown mutation in the other chromosome prented at a mean age珍惜现在
of 17.8 (SD 5.8)...
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