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：

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

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[4] Scott Hamish S., 1992, Human Mutation, V1, P103, DOI 10.1002/humu.1380010204
[5] HUMAN ALPHA-L-IDURONIDASE - CDNA ISOLATION AND EXPRESSION
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ANSON, DS
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[6] STRUCTURE AND SEQUENCE OF THE HUMAN ALPHA-L-IDURONIDASE GENE
SCOTT, HS
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HOPWOOD, JJ
MORRIS, CP
[J]. 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
SPINARDI, L
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[J]. NUCLEIC ACIDS RESEARCH, 1991, 19 (14) : 4009 - 4009
[9] STOLTZFUS LJ, 1992, J BIOL CHEM, V267, P6570