Characterization of the breakpoint of a 3.5-kb deletion of the beta-globin gene.
作者信息
Lynch J R, Brown J M, Best S, Jennings M W, Weatherall D J
机构信息
Nuffield Department of Clinical Medicine, John Radcliffe Hospital, Headington, Oxford, England.
出版信息
Genomics. 1991 Jun;10(2):509-11. doi: 10.1016/0888-7543(91)90344-e.
PMID:2071159
Abstract
The precise extent and breakpoints of a deletion of the beta-globin gene in a Thai patient have been determined using direct sequencing of a PCR product. This lesion is not detectable by current screening methods using PCR to analyze the beta-globin genes and is, therefore, a potential source of error in the diagnosis and prenatal detection of beta-thalassemia.
摘要
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