GENETIC-DISORDERS OF COLLAGEN

被引:47
作者
TSIPOURAS, P
RAMIREZ, F
机构
[1] UNIV MED & DENT NEW JERSEY, RUTGERS MED SCH, DEPT BIOCHEM, PISCATAWAY, NJ 08854 USA
[2] SUNY DOWNSTATE MED CTR, DEPT MICROBIOL & IMMUNOL, BROOKLYN, NY 11203 USA
[3] SUNY DOWNSTATE MED CTR, MORSE INST MOLEC GENET, BROOKLYN, NY 11203 USA
关键词
D O I
10.1136/jmg.24.1.2
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
引用
收藏
页码:2 / 8
页数:7
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[1]   MARFAN-SYNDROME - DEMONSTRATION OF ABNORMAL ELASTIN IN AORTA [J].
ABRAHAM, PA ;
PEREJDA, AJ ;
CARNES, WH ;
UITTO, J .
JOURNAL OF CLINICAL INVESTIGATION, 1982, 70 (06) :1245-1252
[2]   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
[3]  
BARSH GS, 1982, P NATL ACAD SCI-BIOL, V79, P3838, DOI 10.1073/pnas.79.12.3838
[4]   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
[5]   SUBTLE STRUCTURAL ALTERATIONS IN THE CHAINS OF TYPE-I PROCOLLAGEN PRODUCE OSTEOGENESIS IMPERFECTA TYPE-II [J].
BONADIO, J ;
BYERS, PH .
NATURE, 1985, 316 (6026) :363-366
[6]   STRUCTURALLY DISTINCT COLLAGEN TYPES [J].
BORNSTEIN, P ;
SAGE, H .
ANNUAL REVIEW OF BIOCHEMISTRY, 1980, 49 :957-1003
[7]   THE MARFAN-SYNDROME - A DEFICIENCY IN CHEMICALLY STABLE COLLAGEN CROSS-LINKS [J].
BOUCEK, RJ ;
NOBLE, NL ;
GUNJASMITH, Z ;
BUTLER, WT .
NEW ENGLAND JOURNAL OF MEDICINE, 1981, 305 (17) :988-991
[8]  
Byers P.H., 2014, GENETIC METABOLIC DI, P56
[9]   MARFAN-SYNDROME - ABNORMAL ALPHA-2 CHAIN IN TYPE-I COLLAGEN [J].
BYERS, PH ;
SIEGEL, RC ;
PETERSON, KE ;
ROWE, DW ;
HOLBROOK, KA ;
SMITH, LT ;
CHANG, YH ;
FU, JCC .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA-BIOLOGICAL SCIENCES, 1981, 78 (12) :7745-7749
[10]  
CHU ML, 1984, NATURE, V310, P337, DOI 10.1038/310337a0