CHARACTERIZATION OF 3 NEW DELETIONS AT THE 5' END OF THE HPRT STRUCTURAL GENE

被引：5

作者：

WEHNERT, M

HERRMANN, FH

机构：

[1] Institute of Medical Genetics, Greifswald, DDR-2200, Fleischmannstr. 42/44, Germany (Democratic Republic

来源：

JOURNAL OF INHERITED METABOLIC DISEASE | 1990年 / 13卷 / 02期

关键词：

D O I：

10.1007/BF01799683

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

In a panel of seven unrelated HPRT-deficient patients three partial deletions of the 5′ end of the HPRT structural gene were identified by Southern blot analysis. The deletions could be defined as the loss of exons 1-3, exons 2-3 and exon 3 respectively. In two of the deletion mutations aberrant restriction fragments occurred. © 1990 Society for the Study of Inborn Errors of Metabolism and Kluwer Academic Publishers.

引用

页码：178 / 183

页数：6

共 14 条

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