LETHAL OSTEOGENESIS IMPERFECTA RESULTING FROM A SINGLE NUCLEOTIDE CHANGE IN ONE HUMAN PRO-ALPHA-1(I) COLLAGEN ALLELE

被引：107

作者：

COHN, DH

BYERS, PH

STEINMANN, B

GELINAS, RE

机构：

[1] UNIV WASHINGTON, DEPT MED, SEATTLE, WA 98195 USA

[2] UNIV WASHINGTON, CTR INHERITED DIS, SEATTLE, WA 98195 USA

[3] UNIV ZURICH, DEPT PEDIAT, DIV METAB, CH-8006 ZURICH, SWITZERLAND

来源：

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA | 1986年 / 83卷 / 16期

关键词：

D O I：

10.1073/pnas.83.16.6045

中图分类号：

O [数理科学和化学]; P [天文学、地球科学]; Q [生物科学]; N [自然科学总论];

学科分类号：

07 ; 0710 ; 09 ;

摘要：

引用

页码：6045 / 6047

页数：3

共 24 条

[1] ROLE OF CIS-TRANS ISOMERIZATION OF PEPTIDE-BONDS IN COIL REVERSIBLE TRIPLE HELIX CONVERSION OF COLLAGEN [J].

BACHINGER, HP ;

BRUCKNER, P ;

TIMPL, R ;

ENGEL, J .

EUROPEAN JOURNAL OF BIOCHEMISTRY, 1978, 90 (03) :605-613

[2]

BARSH GS, 1984, J BIOL CHEM, V259, P4906

[3] 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

[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] SCREENING GAMMAGT RECOMBINANT CLONES BY HYBRIDIZATION TO SINGLE PLAQUES INSITU [J].

BENTON, WD ;

DAVIS, RW .

SCIENCE, 1977, 196 (4286) :180-182

[6] THE NATIVE AND DENATURED STATES OF SOLUBLE COLLAGEN [J].

BOEDTKER, H ;

DOTY, P .

JOURNAL OF THE AMERICAN CHEMICAL SOCIETY, 1956, 78 (17) :4267-4280

[7]

BONADIO J, 1985, J BIOL CHEM, V260, P1734

[8] 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

[9]

Byers P.H., 2014, GENETIC METABOLIC DI, P56

[10]

BYERS PH, 1983, AM J HUM GENET, V35, pA39

← 1 2 3 →