诺里病的携带者检测与产前诊断
Carrier detection and prenatal diagnosis in Norrie disease.
作者信息
Curtis D, Blank C E, Parsons M A, Hughes H N
机构信息
Sub-department of Medical Genetics, University of Sheffield, U.K.
出版信息
Prenat Diagn. 1989 Oct;9(10):735-40. doi: 10.1002/pd.1970091009.
PMID:2574445
Abstract
We report the use of DNA probes to determine carrier status in three young women from a large kindred with Norrie disease. One of the women requested prenatal diagnosis during pregnancy. In this pedigree, Norrie disease was not characterized by a deletion at DXS7.
摘要
我们报告了使用DNA探针来确定来自一个患有诺里病的大家系中的三名年轻女性的携带者状态。其中一名女性在怀孕期间要求进行产前诊断。在这个家系中，诺里病并非以DXS7处的缺失为特征。
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