DIFFERENT SEX-DEPENDENT CONSTRAINTS IN CTG LENGTH VARIATION AS EXPLANATION FOR CONGENITAL MYOTONIC-DYSTROPHY

被引：37

作者：

LAVEDAN, C

HOFMANNRADVANYI, H

RABES, JP

ROUME, J

JUNIEN, C

机构：

[1] HOP AMBROISE PARE,F-92100 BOULOGNE,FRANCE

[2] HOP ST ANTOINE,F-75571 PARIS 12,FRANCE

来源：

LANCET | 1993年 / 341卷 / 8839期

关键词：

D O I：

10.1016/0140-6736(93)90097-Z

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

引用

页码：237 / 237

页数：1

共 8 条

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NATURE, 1992, 355 (6360) :548-551

[2] MOLECULAR-BASIS OF MYOTONIC-DYSTROPHY - EXPANSION OF A TRINUCLEOTIDE (CTG) REPEAT AT THE 3' END OF A TRANSCRIPT ENCODING A PROTEIN-KINASE FAMILY MEMBER [J].

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[3] DETECTION OF AN UNSTABLE FRAGMENT OF DNA SPECIFIC TO INDIVIDUALS WITH MYOTONIC-DYSTROPHY [J].

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[4] AN UNSTABLE TRIPLET REPEAT IN A GENE RELATED TO MYOTONIC MUSCULAR-DYSTROPHY [J].

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[5] EXPANSION OF AN UNSTABLE DNA REGION AND PHENOTYPIC VARIATION IN MYOTONIC-DYSTROPHY [J].

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NATURE, 1992, 355 (6360) :545-546

[6]

LAVEDAN C, IN PRESS AM J HUM GE

[7] MYOTONIC-DYSTROPHY MUTATION - AN UNSTABLE CTG REPEAT IN THE 3' UNTRANSLATED REGION OF THE GENE [J].

MAHADEVAN, M ;

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[8] CORRELATION BETWEEN CTG TRINUCLEOTIDE REPEAT LENGTH AND FREQUENCY OF SEVERE CONGENITAL MYOTONIC-DYSTROPHY [J].

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METTLER, G ;

BARCELO, J ;

KORNELUK, RG .

NATURE GENETICS, 1992, 1 (03) :192-195

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