UNSTABLE TRINUCLEOTIDE REPEATS AND THE DIAGNOSIS OF NEURODEGENERATIVE DISEASE

被引：8

作者：

ORR, HT

机构：

[1] Department of Laboratory Medicine and Pathology, Insitute of Human Genetics, University of Minnesota, Minneapolis

来源：

HUMAN PATHOLOGY | 1994年 / 25卷 / 06期

关键词：

D O I：

10.1016/0046-8177(94)90226-7

中图分类号：

R36 [病理学];

学科分类号：

100104 ;

摘要：

Human genes containing unstable triplet repeats are associated with several neuropsychiatric diseases. These diseases all show a marked variation in clinical symptoms and genetic anticipation. The molecular understanding of these diseases provides the diagnostic laboratory with the capability to test directly whether an individual's DNA contains the disease-causing mutation, either as a confirmation of a clinical diagnosis or presymptomatically. © 1994.

引用

页码：598 / 601

页数：4

共 30 条

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