DETECTION OF MINIMUM MUTATION CARRIERS IN MYOTONIC-DYSTROPHY

被引：6

作者：

HARPER, PS

HARLEY, HH

SHAW, DJ

机构：

来源：

LANCET | 1992年 / 340卷 / 8813期

关键词：

D O I：

10.1016/0140-6736(92)90501-S

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

引用

页码：238 / 239

页数：2

共 8 条

[1] CLONING OF THE ESSENTIAL MYOTONIC-DYSTROPHY REGION AND MAPPING OF THE PUTATIVE DEFECT [J].

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 .

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].

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 ;

JUVONEN, V ;

JOHNSON, K ;

HARPER, PS ;

SHAW, DJ ;

HOUSMAN, DE .

CELL, 1992, 68 (04) :799-808

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

BUXTON, J ;

SHELBOURNE, P ;

DAVIES, J ;

JONES, C ;

VANTONGEREN, T ;

ASLANIDIS, C ;

DEJONG, P ;

JANSEN, G ;

ANVRET, M ;

RILEY, B ;

WILLIAMSON, R ;

JOHNSON, K .

NATURE, 1992, 355 (6360) :547-548

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

HARLEY, HG ;

BROOK, JD ;

RUNDLE, SA ;

CROW, S ;

REARDON, W ;

BUCKLER, AJ ;

HARPER, PS ;

HOUSMAN, DE ;

SHAW, DJ .

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

[5] UNSTABLE DNA-SEQUENCE IN MYOTONIC-DYSTROPHY [J].

HARLEY, HG ;

RUNDLE, SA ;

REARDON, W ;

MYRING, J ;

CROW, S ;

BROOK, JD ;

HARPER, PS ;

SHAW, DJ .

LANCET, 1992, 339 (8802) :1125-1128

[6] GENEALOGICAL RECONSTRUCTION OF MYOTONIC-DYSTROPHY IN THE SAGUENAY-LAC-SAINT-JEAN AREA (QUEBEC, CANADA) [J].

MATHIEU, J ;

DEBRAEKELEER, M ;

PREVOST, C .

NEUROLOGY, 1990, 40 (05) :839-842

[7] DETECTION OF FULL FRAGILE-X MUTATION [J].

PERGOLIZZI, RG ;

ERSTER, SH ;

GOONEWARDENA, P ;

BROWN, WT .

LANCET, 1992, 339 (8788) :271-272

[8] POPULATION SCREENING FOR FRAGILE-X [J].

TURNER, G ;

ROBINSON, H ;

LAING, S ;

VANDENBERK, M ;

COLLEY, A ;

GODDARD, A ;

SHERMAN, S ;

PARTINGTON, M .

LANCET, 1992, 339 (8803) :1210-1213

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