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,H性知识大全
oogenraad, T U,Ploos van Amstel, J K,Berger, R 年份： 1995年
期号： 第6期
关键词： CHROMOSOME MIC送英语
RODISSECTION;MICROSATELLITE;LINKAGE MAP
摘要：Wilson dia is an autos电子秤维修
omal recessive copper storage dia resulting from an inability of the liver to excrete copper. Patients can prent at a young age, generally with symptoms of liver c梦到了蛇
opper intoxication, or later 王羲之集字春联
on, genera一年级上册所有古诗
lly 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 prentation. Ten patients homozygous for the H714Q mutat学校工作总结
ion prented at a mean age of 20.3 (SD 6.1) years, with either neurological symptoms 鼻子凹陷
or
a Kayr-Fleischer ring. Six patients with a H714Q mutation in one chromosome and an unknown mutation in the other chromosome prent倒车技巧
ed at a mean age of 17.8 (SD 5.8)...
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