2 NOVEL MUTATIONS CAUSING MUCOPOLYSACCHARIDOSIS TYPE-1 DETECTED BY SINGLE-STRAND CONFORMATIONAL-ANALYSIS OF THE ALPHA-L-IDURONIDASE GENE

被引：17

作者：

CLARKE, LA ^{[1
]}

SCOTT, HS ^{[1
]}

机构：

[1] ADELAIDE CHILDRENS HOSP INC,DEPT CHEM PATHOL,LYSOSOMAL DIS RES UNIT,ADELAIDE,SA 5006,AUSTRALIA

来源：

HUMAN MOLECULAR GENETICS | 1993年 / 2卷 / 08期

基金：

英国医学研究理事会;

关键词：

D O I：

10.1093/hmg/2.8.1311

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

[No abstract available]

引用

页码：1311 / 1312

页数：2

共 9 条

[1]

Neufeld EF, 1989, METABOLIC BASIS INHE, P1565

[2] DETECTION OF POLYMORPHISMS OF HUMAN DNA BY GEL-ELECTROPHORESIS AS SINGLE-STRAND CONFORMATION POLYMORPHISMS [J].

ORITA, M ;

IWAHANA, H ;

KANAZAWA, H ;

HAYASHI, K ;

SEKIYA, T .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1989, 86 (08) :2766-2770

[3]

Scott Hamish S., 1992, Human Mutation, V1, P333, DOI 10.1002/humu.1380010412

[4]

Scott Hamish S., 1992, Human Mutation, V1, P103, DOI 10.1002/humu.1380010204

[5] HUMAN ALPHA-L-IDURONIDASE - CDNA ISOLATION AND EXPRESSION [J].

SCOTT, HS ;

ANSON, DS ;

ORSBORN, AM ;

NELSON, PV ;

CLEMENTS, PR ;

MORRIS, CP ;

HOPWOOD, JJ .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1991, 88 (21) :9695-9699

[6] STRUCTURE AND SEQUENCE OF THE HUMAN ALPHA-L-IDURONIDASE GENE [J].

SCOTT, HS ;

GUO, XH ;

HOPWOOD, JJ ;

MORRIS, CP .

GENOMICS, 1992, 13 (04) :1311-1313

[7]

SCOTT HS, 1990, AM J HUM GENET, V47, P802

[8] PROTOCOLS FOR AN IMPROVED DETECTION OF POINT MUTATIONS BY SSCP [J].

SPINARDI, L ;

MAZARS, R ;

THEILLET, C .

NUCLEIC ACIDS RESEARCH, 1991, 19 (14) :4009-4009

[9]

STOLTZFUS LJ, 1992, J BIOL CHEM, V267, P6570

← 1 →