Prevalence of congenital homocystinuria in Denmark

被引:49
作者
Gaustadnes, M [1 ]
Ingerslev, J [1 ]
Rütiger, N [1 ]
机构
[1] Aarhus Univ Hosp, DK-8200 Aarhus N, Denmark
关键词
D O I
10.1056/NEJM199905133401915
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
引用
收藏
页码:1513 / 1513
页数:1
相关论文
共 4 条
[1]   Detection of a novel deletion in the cystathionine β-synthase (CBS) gene using an improved genomic DNA based method [J].
Gaustadnes, M ;
Kluijtmans, LAJ ;
Jensen, OK ;
Rasmussen, K ;
Heil, SG ;
Kraus, JP ;
Blom, HJ ;
Ingerslev, J ;
Rüdiger, N .
FEBS LETTERS, 1998, 431 (02) :175-179
[2]   A common 844INS68 insertion variant in the cystathionine beta-synthase gene [J].
Kluijtmans, LAJ ;
Boers, GHJ ;
Trijbels, FJM ;
vanLithZanders, HMA ;
vandenHeuvel, LPWJ ;
Blom, HJ .
BIOCHEMICAL AND MOLECULAR MEDICINE, 1997, 62 (01) :23-25
[3]  
Kozich Viktor, 1992, Human Mutation, V1, P113, DOI 10.1002/humu.1380010206
[4]  
MUDD SH, 1995, METABOLIC MOL BASES, V1, P1279