RAPID DETECTION OF COMMON METACHROMATIC LEUKODYSTROPHY MUTATIONS BY RESTRICTION ANALYSIS OF ARYLSULFATASE-A GENE AMPLIMERS

被引：7

作者：

BENYOSEPH, Y

MITCHELL, DA

机构：

[1] Biochemical and Molecular Genetics Laboratory, Department of Pediatrics, Wayne State University School of Medicine, Detroit, MI 48201, 2101 Elliman

来源：

CLINICA CHIMICA ACTA | 1994年 / 226卷 / 01期

关键词：

METACHROMATIC LEUKODYSTROPHY; ARYLSULFATASE A GENE; DNA MUTATIONAL ANALYSIS;

D O I：

10.1016/0009-8981(94)90104-X

中图分类号：

R446 [实验室诊断]; R-33 [实验医学、医学实验];

学科分类号：

1001 ;

摘要：

[No abstract available]

引用

页码：77 / 82

页数：6

共 9 条

[1]

BARTH ML, 1993, HUM GENET, V91, P73

[2] INCIDENCE AND GENETICS OF METACHROMATIC LEUCODYSTROPHY IN NORTHERN SWEDEN [J].

GUSTAVSON, KH ;

HAGBERG, B .

ACTA PAEDIATRICA SCANDINAVICA, 1971, 60 (05) :585-+

[3]

HIGUCHI R, 1989, AMPLIFICATIONS, V2, P1

[4]

KOLODNY EH, 1989, METABOLIC BASIS INHE, V2, P1721

[5] STRUCTURE OF THE ARYLSULFATASE-A GENE [J].

KREYSING, J ;

VONFIGURA, K ;

GIESELMANN, V .

EUROPEAN JOURNAL OF BIOCHEMISTRY, 1990, 191 (03) :627-631

[6] MOLECULAR-BASIS OF DIFFERENT FORMS OF METACHROMATIC LEUKODYSTROPHY [J].

POLTEN, A ;

FLUHARTY, AL ;

FLUHARTY, CB ;

KAPPLER, J ;

VONFIGURA, K ;

GIESELMANN, V .

NEW ENGLAND JOURNAL OF MEDICINE, 1991, 324 (01) :18-22

[7] PRIMER-DIRECTED ENZYMATIC AMPLIFICATION OF DNA WITH A THERMOSTABLE DNA-POLYMERASE [J].

SAIKI, RK ;

GELFAND, DH ;

STOFFEL, S ;

SCHARF, SJ ;

HIGUCHI, R ;

HORN, GT ;

MULLIS, KB ;

ERLICH, HA .

SCIENCE, 1988, 239 (4839) :487-491

[8] DIAGNOSIS OF GENETIC-DISEASE BY PRIMER-SPECIFIED RESTRICTION MAP MODIFICATION, WITH APPLICATION TO CYSTIC-FIBROSIS AND RETINITIS-PIGMENTOSA [J].

SORSCHER, EJ ;

HUANG, Z .

LANCET, 1991, 337 (8750) :1115-1118

[9]

STEIN C, 1989, J BIOL CHEM, V264, P1252

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