SEX-RELATED DIFFERENCE IN INTERGENERATIONAL EXPANSION OF MYOTONIC-DYSTROPHY GENE

被引:32
作者
COBO, AM
BAIGET, M
DEMUNAIN, AL
POZA, JJ
EMPARANZA, JI
JOHNSON, K
机构
[1] HOSP NTRA SRA ARANZAZU,DEPT NEUROL,SAN SEBASTIAN,SPAIN
[2] CHARING CROSS & WESTMINSTER MED SCH,DEPT ANAT,LONDON W6,ENGLAND
关键词
D O I
10.1016/0140-6736(93)93186-5
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
引用
收藏
页码:1159 / 1160
页数:2
相关论文
共 7 条
[1]   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
[2]  
IMBERT G, IN PRESS NATURE GENE
[3]  
MULLEY, 1993, LANCET, V341, P236
[4]  
MULLEY, 1993, LANCET, V341, P237
[5]   REDUCTION IN SIZE OF THE MYOTONIC-DYSTROPHY TRINUCLEOTIDE REPEAT MUTATION DURING TRANSMISSION [J].
OHOY, KL ;
TSILFIDIS, C ;
MAHADEVAN, MS ;
NEVILLE, CE ;
BARCELO, J ;
HUNTER, AGW ;
KORNELUK, RG .
SCIENCE, 1993, 259 (5096) :809-812
[6]   DIRECT DIAGNOSIS OF MYOTONIC-DYSTROPHY WITH A DISEASE-SPECIFIC DNA MARKER [J].
SHELBOURNE, P ;
DAVIES, J ;
BUXTON, J ;
ANVRET, M ;
BLENNOW, E ;
BONDUELLE, M ;
SCHMEDDING, E ;
GLASS, I ;
LINDENBAUM, R ;
LANE, R ;
WILLIAMSON, R ;
JOHNSON, K .
NEW ENGLAND JOURNAL OF MEDICINE, 1993, 328 (07) :471-475
[7]   UNSTABLE DNA MAY BE RESPONSIBLE FOR THE INCOMPLETE PENETRANCE OF THE MYOTONIC-DYSTROPHY PHENOTYPE [J].
SHELBOURNE, P ;
WINQVIST, R ;
KUNERT, E ;
DAVIES, J ;
LEISTI, J ;
THIELE, H ;
BACHMANN, H ;
BUXTON, J ;
WILLIAMSON, B ;
JOHNSON, K .
HUMAN MOLECULAR GENETICS, 1992, 1 (07) :467-473