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

[1] CLONING OF THE ESSENTIAL MYOTONIC-DYSTROPHY REGION AND MAPPING OF THE PUTATIVE DEFECT
ASLANIDIS, C
JANSEN, G
AMEMIYA, C
SHUTLER, G
MAHADEVAN, M
TSILFIDIS, C
CHEN, C
ALLEMAN, J
WORMSKAMP, NGM
VOOIJS, M
BUXTON, J
JOHNSON, K
SMEETS, HJM
LENNON, GG
CARRANO, AV
KORNELUK, RG
WIERINGA, B
DEJONG, PJ
[J]. 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
BROOK, JD
MCCURRACH, ME
HARLEY, HG
BUCKLER, AJ
CHURCH, D
ABURATANI, H
HUNTER, K
STANTON, VP
THIRION, JP
HUDSON, T
SOHN, R
ZEMELMAN, B
SNELL, RG
RUNDLE, SA
CROW, S
DAVIES, J
SHELBOURNE, P
BUXTON, J
JONES, C
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JOHNSON, K
HARPER, PS
SHAW, DJ
HOUSMAN, DE
[J]. CELL, 1992, 68 (04) : 799 - 808
[3] DETECTION OF AN UNSTABLE FRAGMENT OF DNA SPECIFIC TO INDIVIDUALS WITH MYOTONIC-DYSTROPHY
BUXTON, J
SHELBOURNE, P
DAVIES, J
JONES, C
VANTONGEREN, T
ASLANIDIS, C
DEJONG, P
JANSEN, G
ANVRET, M
RILEY, B
WILLIAMSON, R
JOHNSON, K
[J]. NATURE, 1992, 355 (6360) : 547 - 548
[4] AN UNSTABLE TRIPLET REPEAT IN A GENE RELATED TO MYOTONIC MUSCULAR-DYSTROPHY
FU, YH
PIZZUTI, A
FENWICK, RG
KING, J
RAJNARAYAN, S
DUNNE, PW
DUBEL, J
NASSER, GA
ASHIZAWA, T
DEJONG, P
WIERINGA, B
KORNELUK, R
PERRYMAN, MB
EPSTEIN, HF
CASKEY, CT
[J]. SCIENCE, 1992, 255 (5049) : 1256 - 1258
[5] EXPANSION OF AN UNSTABLE DNA REGION AND PHENOTYPIC VARIATION IN MYOTONIC-DYSTROPHY
HARLEY, HG
BROOK, JD
RUNDLE, SA
CROW, S
REARDON, W
BUCKLER, AJ
HARPER, PS
HOUSMAN, DE
SHAW, DJ
[J]. 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
MAHADEVAN, M
TSILFIDIS, C
SABOURIN, L
SHUTLER, G
AMEMIYA, C
JANSEN, G
NEVILLE, C
NARANG, M
BARCELO, J
OHOY, K
LEBLOND, S
EARLEMACDONALD, J
DEJONG, PJ
WIERINGA, B
KORNELUK, RG
[J]. SCIENCE, 1992, 255 (5049) : 1253 - 1255
[8] CORRELATION BETWEEN CTG TRINUCLEOTIDE REPEAT LENGTH AND FREQUENCY OF SEVERE CONGENITAL MYOTONIC-DYSTROPHY
TSILFIDIS, C
MACKENZIE, AE
METTLER, G
BARCELO, J
KORNELUK, RG
[J]. NATURE GENETICS, 1992, 1 (03) : 192 - 195

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