2 NOVEL MUTATIONS AND A NEUTRAL POLYMORPHISM IN EGF-LIKE DOMAINS OF THE FIBRILLIN GENE (FBN1) - SSCP SCREENING OF EXONS 15-21 IN MARFAN-SYNDROME PATIENTS

被引:34
作者
HAYWARD, C
RAE, AL
PORTEOUS, MEM
LOGIE, LJ
BROCK, DJH
机构
关键词
D O I
10.1093/hmg/3.2.373
中图分类号
Q5 [生物化学]; Q7 [分子生物学];
学科分类号
071010 ; 081704 ;
摘要
引用
收藏
页码:373 / 375
页数:3
相关论文
共 23 条
[1]   INTERNATIONAL NOSOLOGY OF HERITABLE DISORDERS OF CONNECTIVE-TISSUE, BERLIN, 1986 [J].
BEIGHTON, P ;
DEPAEPE, A ;
DANKS, D ;
FINIDORI, G ;
GEDDEDAHL, T ;
GOODMAN, R ;
HALL, JG ;
HOLLISTER, DW ;
HORTON, W ;
MCKUSICK, VA ;
OPITZ, JM ;
POPE, FM ;
PYERITZ, RE ;
RIMOIN, DL ;
SILLENCE, D ;
SPRANGER, JW ;
THOMPSON, E ;
TSIPOURAS, P ;
VILJOEN, D ;
WINSHIP, I ;
YOUNG, I .
AMERICAN JOURNAL OF MEDICAL GENETICS, 1988, 29 (03) :581-594
[2]  
BUDOWLE B, 1991, AM J HUM GENET, V48, P137
[3]  
Dietz Harry C., 1992, Human Mutation, V1, P366, DOI 10.1002/humu.1380010504
[4]   THE SKIPPING OF CONSTITUTIVE EXONS INVIVO INDUCED BY NONSENSE MUTATIONS [J].
DIETZ, HC ;
VALLE, D ;
FRANCOMANO, CA ;
KENDZIOR, RJ ;
PYERITZ, RE ;
CUTTING, GR .
SCIENCE, 1993, 259 (5095) :680-683
[5]   MARFAN PHENOTYPE VARIABILITY IN A FAMILY SEGREGATING A MISSENSE MUTATION IN THE EPIDERMAL GROWTH-FACTOR LIKE MOTIF OF THE FIBRILLIN GENE [J].
DIETZ, HC ;
PYERITZ, RE ;
PUFFENBERGER, EG ;
KENDZIOR, RJ ;
CORSON, GM ;
MASLEN, CL ;
SAKAI, LY ;
FRANCOMANO, CA ;
CUTTING, GR .
JOURNAL OF CLINICAL INVESTIGATION, 1992, 89 (05) :1674-1680
[6]   THE MARFAN-SYNDROME LOCUS - CONFIRMATION OF ASSIGNMENT TO CHROMOSOME-15 AND IDENTIFICATION OF TIGHTLY LINKED MARKERS AT 15Q15-Q21.3 [J].
DIETZ, HC ;
PYERITZ, RE ;
HALL, BD ;
CADLE, RG ;
HAMOSH, A ;
SCHWARTZ, J ;
MEYERS, DA ;
FRANCOMANO, CA .
GENOMICS, 1991, 9 (02) :355-361
[7]   4 NOVEL FBN1 MUTATIONS - SIGNIFICANCE FOR MUTANT TRANSCRIPT LEVEL AND EGF-LIKE DOMAIN CALCIUM-BINDING IN THE PATHOGENESIS OF MARFAN-SYNDROME [J].
DIETZ, HC ;
MCINTOSH, I ;
SAKAI, LY ;
CORSON, GM ;
CHALBERG, SC ;
PYERITZ, RE ;
FRANCOMANO, CA .
GENOMICS, 1993, 17 (02) :468-475
[8]   MARFAN-SYNDROME CAUSED BY A RECURRENT DENOVO MISSENSE MUTATION IN THE FIBRILLIN GENE [J].
DIETZ, HC ;
CUTTING, GR ;
PYERITZ, RE ;
MASLEN, CL ;
SAKAI, LY ;
CORSON, GM ;
PUFFENBERGER, EG ;
HAMOSH, A ;
NANTHAKUMAR, EJ ;
CURRISTIN, SM ;
STETTEN, G ;
MEYERS, DA ;
FRANCOMANO, CA .
NATURE, 1991, 352 (6333) :337-339
[9]  
GODFREY M, 1993, AM J HUM GENET, V53, P472
[10]  
GROSSFIELD J, 1993, AM J HUM GENET, V53