Mutational analysis of Sanfilippo syndrome type A (MPS IIIA): identification of 13 novel mutations

被引:33
作者
Beesley, CE [1 ]
Young, EP [1 ]
Vellodi, A [1 ]
Winchester, BG [1 ]
机构
[1] Inst Child Hlth, Biochem Endocrinol & Metab Unit, London WC1N 1EH, England
关键词
D O I
10.1136/jmg.37.9.704
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
引用
收藏
页码:704 / 707
页数:4
相关论文
共 25 条
[1]  
ANDRIA G, 1979, CLIN GENET, V15, P500
[2]  
BALLABIO A, 1984, CLIN GENET, V25, P191
[3]   Molecular defects in Sanfilippo syndrome type A [J].
Blanch, L ;
Weber, B ;
Guo, XH ;
Scott, HS ;
Hopwood, JJ .
HUMAN MOLECULAR GENETICS, 1997, 6 (05) :787-791
[4]  
Bunge S, 1997, HUM MUTAT, V10, P479, DOI 10.1002/(SICI)1098-1004(1997)10:6<479::AID-HUMU10>3.3.CO
[5]  
2-4
[6]  
Cooper D, 1995, METABOLIC MOL BASES, P259
[7]  
COOPER DN, 1991, HUM GENET, V87, P409
[8]   SEQUENCE VARIATIONS IN THE 1ST EXON OF ALPHA-GALACTOSIDASE-A [J].
DAVIES, JP ;
WINCHESTER, BG ;
MALCOLM, S .
JOURNAL OF MEDICAL GENETICS, 1993, 30 (08) :658-663
[9]  
Di Natale P, 1998, HUM MUTAT, V11, P313, DOI 10.1002/(SICI)1098-1004(1998)11:4<313::AID-HUMU9>3.0.CO
[10]  
2-P