MUTATIONS IN COLLAGEN GENES - CONSEQUENCES FOR RARE AND COMMON DISEASES

被引：42

作者：

PROCKOP, DJ

机构：

来源：

JOURNAL OF CLINICAL INVESTIGATION | 1985年 / 75卷 / 03期

关键词：

D O I：

10.1172/JCI111773

中图分类号：

R-3 [医学研究方法]; R3 [基础医学];

学科分类号：

1001 ;

摘要：

引用

页码：783 / 787

页数：5

共 31 条

[1] REDUCED SECRETION OF STRUCTURALLY ABNORMAL TYPE-I PROCOLLAGEN IN A FORM OF OSTEOGENESIS IMPERFECTA
BARSH, GS
BYERS, PH
[J]. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA-BIOLOGICAL SCIENCES, 1981, 78 (08): : 5142 - 5146
[2] MARFAN-SYNDROME - ABNORMAL ALPHA-2 CHAIN IN TYPE-I COLLAGEN
BYERS, PH
SIEGEL, RC
PETERSON, KE
ROWE, DW
HOLBROOK, KA
SMITH, LT
CHANG, YH
FU, JCC
[J]. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA-BIOLOGICAL SCIENCES, 1981, 78 (12): : 7745 - 7749
[3] ABNORMAL ALPHA-2-CHAIN IN TYPE-I COLLAGEN FROM A PATIENT WITH A FORM OF OSTEOGENESIS IMPERFECTA
BYERS, PH
SHAPIRO, JR
ROWE, DW
DAVID, KE
HOLBROOK, KA
[J]. JOURNAL OF CLINICAL INVESTIGATION, 1983, 71 (03) : 689 - 697
[4] 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
[5] CHU ML, 1984, J BIOL CHEM
[6] DEAK SB, 1983, J BIOL CHEM, V258, P5192
[7] DEWET WJ, 1983, J BIOL CHEM, V258, P7721
[8] NUCLEASE S1 MAPPING OF A HOMOZYGOUS MUTATION IN THE CARBOXYLPROPEPTIDE-CODING REGION OF THE PRO-ALPHA-2(I) COLLAGEN GENE IN A PATIENT WITHE OSTEOGENESIS IMPERFECTA
DICKSON, LA
PIHLAJANIEMI, T
DEAK, S
POPE, FM
NICHOLLS, A
PROCKOP, DJ
MYERS, JC
[J]. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA-BIOLOGICAL SCIENCES, 1984, 81 (14): : 4524 - 4528
[9] EYRE DR, 1984, T ORTHOP RES SOC, V9, P100
[10] HENKE E, 1985, J CELL BIOCH

← 1 2 3 4 →