A human compound heterozygote for two MLH1 missense mutations

被引:42
作者
Hackman, P
Tannergard, P
OseiMensa, S
Chen, JD
Kane, MF
Kolodner, R
Lambert, B
Hellgren, D
Lindblom, A
机构
[1] KAROLINSKA INST,NOVUM,DEPT BIOSCI,ENVIRONM MED UNIT,S-14157 HUDDINGE,SWEDEN
[2] KAROLINSKA INST,DEPT MOL MED,S-17176 STOCKHOLM,SWEDEN
[3] LUDWIG INST CANC RES,LA JOLLA,CA 92093
关键词
D O I
10.1038/ng1097-135
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
引用
收藏
页码:135 / 136
页数:2
相关论文
共 17 条
[1]   CLUES TO THE PATHOGENESIS OF FAMILIAL COLORECTAL-CANCER [J].
AALTONEN, LA ;
PELTOMAKI, P ;
LEACH, FS ;
SISTONEN, P ;
PYLKKANEN, L ;
MECKLIN, JP ;
JARVINEN, H ;
POWELL, SM ;
JEN, J ;
HAMILTON, SR ;
PETERSEN, GM ;
KINZLER, KW ;
VOGELSTEIN, B ;
DELACHAPELLE, A .
SCIENCE, 1993, 260 (5109) :812-816
[2]   T-CELL CLONING TO DETECT THE MUTANT 6-THIOGUANINE-RESISTANT LYMPHOCYTES PRESENT IN HUMAN PERIPHERAL-BLOOD [J].
ALBERTINI, RJ ;
CASTLE, KL ;
BORCHERDING, WR .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA-BIOLOGICAL SCIENCES, 1982, 79 (21) :6617-6621
[3]   Involvement of mouse Mlh1 in DNA mismatch repair and meiotic crossing over [J].
Baker, SM ;
Plug, AW ;
Prolla, TA ;
Bronner, CE ;
Harris, AC ;
Yao, X ;
Christie, DM ;
Monell, C ;
Arnheim, N ;
Bradley, A ;
Ashley, T ;
Liskay, RM .
NATURE GENETICS, 1996, 13 (03) :336-342
[4]   MUTATION IN THE DNA MISMATCH REPAIR GENE HOMOLOG HMLH1 IS ASSOCIATED WITH HEREDITARY NONPOLYPOSIS COLON-CANCER [J].
BRONNER, CE ;
BAKER, SM ;
MORRISON, PT ;
WARREN, G ;
SMITH, LG ;
LESCOE, MK ;
KANE, M ;
EARABINO, C ;
LIPFORD, J ;
LINDBLOM, A ;
TANNERGARD, P ;
BOLLAG, RJ ;
GODWIN, AR ;
WARD, DC ;
NORDENSKJOLD, M ;
FISHEL, R ;
KOLODNER, R ;
LISKAY, RM .
NATURE, 1994, 368 (6468) :258-261
[5]   Meiotic pachytene arrest in MLH1-deficient mice [J].
Edelmann, W ;
Cohen, PE ;
Kane, M ;
Lau, K ;
Morrow, B ;
Bennett, S ;
Umar, A ;
Kunkel, T ;
Cattoretti, G ;
Chaganti, R ;
Pollard, JW ;
Kolodner, RD ;
Kucherlapati, R .
CELL, 1996, 85 (07) :1125-1134
[6]  
ESHLEMAN JR, 1995, ONCOGENE, V10, P33
[7]   LOSS OF THE WILD-TYPE MLH1 GENE IS A FEATURE OF HEREDITARY NONPOLYPOSIS COLORECTAL-CANCER [J].
HEMMINKI, A ;
PELTOMAKI, P ;
MECKLIN, JP ;
JARVINEN, H ;
SALOVAARA, R ;
NYSTROMLAHTI, M ;
DELACHAPELLE, A ;
AALTONEN, LA .
NATURE GENETICS, 1994, 8 (04) :405-410
[8]   HPRT MUTANT FREQUENCY AND GSTM1 GENOTYPE IN NONSMOKING HEALTHY-INDIVIDUALS [J].
HOU, SM ;
FALT, S ;
STEEN, AM .
ENVIRONMENTAL AND MOLECULAR MUTAGENESIS, 1995, 25 (02) :97-105
[9]  
PAPADOPOULOS N, IN PRESS HUM MUTAT
[10]   MISMATCH REPAIR DEFICIENCY IN PHENOTYPICALLY NORMAL HUMAN-CELLS [J].
PARSONS, R ;
LI, GM ;
LONGLEY, M ;
MODRICH, P ;
LIU, B ;
BERK, T ;
HAMILTON, SR ;
KINZLER, KW ;
VOGELSTEIN, B .
SCIENCE, 1995, 268 (5211) :738-740