INHERITED DISORDERS OF COLLAGEN GENE STRUCTURE AND EXPRESSION

被引:77
作者
BYERS, PH
机构
[1] UNIV WASHINGTON, DEPT MED, SEATTLE, WA 98195 USA
[2] UNIV WASHINGTON, CTR INHERITED DIS, SEATTLE, WA 98195 USA
来源
AMERICAN JOURNAL OF MEDICAL GENETICS | 1989年 / 34卷 / 01期
关键词
D O I
10.1002/ajmg.1320340114
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
引用
收藏
页码:72 / 80
页数:9
相关论文
共 91 条
[1]   HOMOZYGOUS OSTEOGENESIS IMPERFECTA UNLINKED TO COLLAGEN-I GENES [J].
AITCHISON, K ;
OGILVIE, D ;
HONEYMAN, M ;
THOMPSON, E ;
SYKES, B .
HUMAN GENETICS, 1988, 78 (03) :233-236
[2]   FOLDING MECHANISM OF THE TRIPLE HELIX IN TYPE-III COLAGEN AND TYPE-III PN-COLLAGEN - ROLE OF DISULFIDE BRIDGES AND PEPTIDE-BOND ISOMERIZATION [J].
BACHINGER, HP ;
BRUCKNER, P ;
TIMPL, R ;
PROCKOP, DJ ;
ENGEL, J .
EUROPEAN JOURNAL OF BIOCHEMISTRY, 1980, 106 (02) :619-632
[3]  
BALDWIN CT, 1988, IN PRESS COLL RELAT
[4]   REDUCED SECRETION OF STRUCTURALLY ABNORMAL TYPE-I PROCOLLAGEN IN A FORM OF OSTEOGENESIS IMPERFECTA [J].
BARSH, GS ;
BYERS, PH .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA-BIOLOGICAL SCIENCES, 1981, 78 (08) :5142-5146
[5]  
BARSH GS, 1984, J BIOL CHEM, V259, P4906
[6]   INTRON-MEDIATED RECOMBINATION MAY CAUSE A DELETION IN AN ALPHA-1 TYPE-I COLLAGEN CHAIN IN A LETHAL FORM OF OSTEOGENESIS IMPERFECTA [J].
BARSH, GS ;
ROUSH, CL ;
BONADIO, J ;
BYERS, PH ;
GELINAS, RE .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1985, 82 (09) :2870-2874
[7]  
BARSH GS, 1982, P NATL ACAD SCI-BIOL, V79, P3838, DOI 10.1073/pnas.79.12.3838
[8]   COLLAGEN DEFECTS IN LETHAL PERINATAL OSTEOGENESIS IMPERFECTA [J].
BATEMAN, JF ;
CHAN, D ;
MASCARA, T ;
ROGERS, JG ;
COLE, WG .
BIOCHEMICAL JOURNAL, 1986, 240 (03) :699-708
[9]   ABNORMAL TYPE-I COLLAGEN-METABOLISM BY CULTURED FIBROBLASTS IN LETHAL PERINATAL OSTEOGENESIS IMPERFECTA [J].
BATEMAN, JF ;
MASCARA, T ;
CHAN, D ;
COLE, WG .
BIOCHEMICAL JOURNAL, 1984, 217 (01) :103-115
[10]  
BATEMAN JF, 1987, J BIOL CHEM, V262, P7021