A NOVEL FIBRILLIN MUTATION IN THE MARFAN-SYNDROME WHICH COULD DISRUPT CALCIUM-BINDING OF THE EPIDERMAL GROWTH FACTOR-LIKE MODULE

被引：71

作者：

HEWETT, DR ^{[1
]}

LYNCH, JR ^{[1
]}

SMITH, R ^{[1
]}

SYKES, BC ^{[1
]}

机构：

[1] NUFFIELD ORTHOPAED CTR,OXFORD OX3 7LD,ENGLAND

来源：

HUMAN MOLECULAR GENETICS | 1993年 / 2卷 / 04期

关键词：

D O I：

10.1093/hmg/2.4.475

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

页码：475 / 477

页数：3

共 20 条

[1] PROTEIN MODULES [J].

BARON, M ;

NORMAN, DG ;

CAMPBELL, ID .

TRENDS IN BIOCHEMICAL SCIENCES, 1991, 16 (01) :13-17

[2]

BARON M, 1992, PROTEIN SCI, V1, P81

[3]

BROWNLEE GG, 1991, NATURE, V351, P164

[4]

CHOMCZYNSKI P, 1987, ANAL BIOCHEM, V162, P156, DOI 10.1016/0003-2697(87)90021-2

[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] 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

[7]

GIBSON MA, 1991, J BIOL CHEM, V266, P7596

[8] THE 1ST EGF-LIKE DOMAIN FROM HUMAN FACTOR-IX CONTAINS A HIGH-AFFINITY CALCIUM-BINDING SITE [J].

HANDFORD, PA ;

BARON, M ;

MAYHEW, M ;

WILLIS, A ;

BEESLEY, T ;

BROWNLEE, GG ;

CAMPBELL, ID .

EMBO JOURNAL, 1990, 9 (02) :475-480

[9] CALCIUM-BINDING TO FIBRILLIN [J].

HANDFORD, PA ;

MAYHEW, M ;

BROWNLEE, GG .

NATURE, 1991, 353 (6343) :395-395

[10]

HORRIGAN SK, 1992, J BIOL CHEM, V267, P10087

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