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HETERODUPLEX SCREENING FOR MOLECULAR DEFECTS IN FACTOR-IX GENES FROM HEMOPHILIA-B FAMILIES

被引：15
作者：
CHEN, SH
SCHOOF, JM
WEINMANN, AF
THOMPSON, AR
机构：
[1] PUGET SOUND BLOOD CTR,SEATTLE,WA 98104
[2] UNIV WASHINGTON,DEPT PEDIAT,SEATTLE,WA 98195
[3] UNIV WASHINGTON,DEPT MED,SEATTLE,WA 98195
来源：
BRITISH JOURNAL OF HAEMATOLOGY | 1995年 / 89卷 / 02期
关键词：
HEMOPHILIA B; FACTOR IX GENE; GENETIC DIAGNOSIS; CARRIER DETECTION; HETERODUPLEX ANALYSIS;
D O I：
10.1111/j.1365-2141.1995.tb03319.x
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
Heteroduplex screening of amplified fragments containing sequences of all known small haemophilic mutations in the factor IX gene localized mutations in 18 new families: 12 were at common recurrent sites; three were novel. Carriers and/or patients from each of 41 families with mutations in 7 exons and 5' and 3' non-coding regions were positive.
引用
收藏
页码：409 / 412
页数：4
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