Trinucleotide repeat contraction: a pitfall in prenatal diagnosis of myotonic dystrophy

被引：5

作者：

Amiel, J

Raclin, V

Jouannic, JM

Morichon, N

Hoffman-Radvanyi, H

Dommergues, M

Feingold, J

Munnich, A

Bonnefont, JP

机构：

[1] Hop Necker Enfants Malad, Dept Genet, F-75743 Paris 15, France

[2] Hop Necker Enfants Malad, U393, INSERM, F-75743 Paris, France

[3] Hop Ambroise Pare, Serv Biochim, Boulogne, France

[4] Hop Necker Enfants Malad, Serv Biochim B, F-75743 Paris 15, France

来源：

JOURNAL OF MEDICAL GENETICS | 2001年 / 38卷 / 12期

关键词：

D O I：

10.1136/jmg.38.12.850

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

引用

页码：850 / 852

页数：3

共 14 条

[1]

ASHIZAWA T, 1994, AM J HUM GENET, V54, P414

[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] REVERSE MUTATION IN MYOTONIC-DYSTROPHY [J].

BRUNNER, HG ;

JANSEN, G ;

NILLESEN, W ;

NELEN, MR ;

DEDIE, CEM ;

HOWELER, CJ ;

VANOOST, BA ;

WIERINGA, B ;

ROPERS, HH ;

SMEETS, HJM .

NEW ENGLAND JOURNAL OF MEDICINE, 1993, 328 (07) :476-480

[4] 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

[5]

Hamshere MG, 1999, J MED GENET, V36, P59

[6] 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

[7]

HARLEY HG, 1993, AM J HUM GENET, V52, P1164

[8]

HARPER PS, 1992, AM J HUM GENET, V51, P10

[9]

LAVEDAN C, 1993, AM J HUM GENET, V52, P875

[10] QUESTIONS OF EXPANSION [J].

MANDEL, JL .

NATURE GENETICS, 1993, 4 (01) :8-9

← 1 2 →