THE CLINICAL-FEATURES OF OSTEOGENESIS IMPERFECTA RESULTING FROM A NONFUNCTIONAL CARBOXY TERMINAL PRO-ALPHA-1(I) PROPEPTIDE OF TYPE-I PROCOLLAGEN AND A SEVERE DEFICIENCY OF NORMAL TYPE-I COLLAGEN IN TISSUES

被引：17

作者：

COLE, WG

CAMPBELL, PE

ROGERS, JG

BATEMAN, JF

机构：

[1] ROYAL CHILDRENS HOSP,DEPT ANAT PATHOL,PARKVILLE,VIC 3052,AUSTRALIA

[2] ROYAL CHILDRENS HOSP,MURDOCH INST,PARKVILLE,VIC 3052,AUSTRALIA

来源：

JOURNAL OF MEDICAL GENETICS | 1990年 / 27卷 / 09期

关键词：

D O I：

10.1136/jmg.27.9.545

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

引用

收藏

页码：545 / 551

页数：7

相关论文

共 22 条

[1] BATEMAN JF, 1988, J BIOL CHEM, V263, P11627
[2] BATEMAN JF, 1989, J BIOL CHEM, V264, P10960
[3] COLLAGEN DEFECTS IN LETHAL PERINATAL OSTEOGENESIS IMPERFECTA
BATEMAN, JF
CHAN, D
MASCARA, T
ROGERS, JG
COLE, WG
[J]. BIOCHEMICAL JOURNAL, 1986, 240 (03) : 699 - 708
[4] ABNORMAL TYPE-I COLLAGEN-METABOLISM BY CULTURED FIBROBLASTS IN LETHAL PERINATAL OSTEOGENESIS IMPERFECTA
BATEMAN, JF
MASCARA, T
CHAN, D
COLE, WG
[J]. BIOCHEMICAL JOURNAL, 1984, 217 (01) : 103 - 115
[5] BATEMAN JF, 1987, J BIOL CHEM, V262, P7021
[6] BONADIO J, UNPUB TRANSGENIC MOU
[7] BYERS PH, 1988, AM J HUM GENET, V42, P237
[8] INTERNAL DELETION IN A COLLAGEN GENE IN A PERINATAL LETHAL FORM OF OSTEOGENESIS IMPERFECTA
CHU, ML
WILLIAMS, CJ
PEPE, G
HIRSCH, JL
PROCKOP, DJ
RAMIREZ, F
[J]. NATURE, 1983, 304 (5921) : 78 - 80
[9] LETHAL OSTEOGENESIS IMPERFECTA RESULTING FROM A SINGLE NUCLEOTIDE CHANGE IN ONE HUMAN PRO-ALPHA-1(I) COLLAGEN ALLELE
COHN, DH
BYERS, PH
STEINMANN, B
GELINAS, RE
[J]. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1986, 83 (16) : 6045 - 6047
[10] THE CLINICAL-FEATURES OF 3 BABIES WITH OSTEOGENESIS IMPERFECTA RESULTING FROM THE SUBSTITUTION OF GLYCINE BY ARGININE IN THE PRO-ALPHA-1(I) CHAIN OF TYPE-I PROCOLLAGEN
COLE, WG
CHOW, CW
ROGERS, JG
BATEMAN, JF
[J]. JOURNAL OF MEDICAL GENETICS, 1990, 27 (04) : 228 - 235