ABNORMAL ALPHA-2-CHAIN IN TYPE-I COLLAGEN FROM A PATIENT WITH A FORM OF OSTEOGENESIS IMPERFECTA

被引:82
|
作者
BYERS, PH
SHAPIRO, JR
ROWE, DW
DAVID, KE
HOLBROOK, KA
机构
[1] UNIV WASHINGTON, DEPT BIOL STRUCT, SEATTLE, WA 98195 USA
[2] UNIV WASHINGTON, DEPT MED, SEATTLE, WA 98195 USA
[3] UNIV CONNECTICUT, HLTH SCI CTR, DEPT PEDIAT, FARMINGTON, CT 06032 USA
[4] NIH, CTR CLIN, BETHESDA, MD 20205 USA
来源
JOURNAL OF CLINICAL INVESTIGATION | 1983年 / 71卷 / 03期
关键词
D O I
10.1172/JCI110815
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
收藏
页码:689 / 697
页数:9
相关论文
共 50 条
  • [21] A GLY238SER SUBSTITUTION IN THE ALPHA-2 CHAIN OF TYPE-I COLLAGEN RESULTS IN OSTEOGENESIS IMPERFECTA TYPE-III
    ROSE, NJ
    MACKAY, K
    BYERS, PH
    DALGLEISH, R
    HUMAN GENETICS, 1995, 95 (02) : 215 - 218
  • [22] STRUCTURAL DEFECT IN TYPE-I COLLAGEN FROM 2 PATIENTS OF THE SAME FAMILY WITH A SEVERE FORM OF OSTEOGENESIS IMPERFECTA TYPE-III
    RAO, VH
    WIRTZ, MK
    GODFREY, M
    BAXTER, BT
    BUEHLER, B
    HOLLISTER, DW
    AMERICAN JOURNAL OF HUMAN GENETICS, 1991, 49 (04) : 103 - 103
  • [23] 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
    PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA-BIOLOGICAL SCIENCES, 1981, 78 (12): : 7745 - 7749
  • [24] A CYSTEINE FOR GLYCINE SUBSTITUTION AT POSITION-175 IN AN ALPHA-1-(I) CHAIN OF TYPE-I COLLAGEN PRODUCES A CLINICALLY HETEROGENEOUS FORM OF OSTEOGENESIS-IMPERFECTA
    WIRTZ, MK
    RAO, VH
    GLANVILLE, RW
    LABHARD, ME
    PRETORIUS, PJ
    DEVRIES, WN
    DEWET, WJ
    HOLLISTER, DW
    CONNECTIVE TISSUE RESEARCH, 1993, 29 (01) : 1 - 11
  • [25] ABNORMAL ALPHA-2(I) CHAIN IN TYPE-I COLLAGEN FROM A PATIENT WITH EHLERS-DANLOS SYNDROME (EDS) TYPE-VII
    STEINMANN, B
    RAO, VH
    GITZELMANN, R
    EXPERIENTIA, 1984, 40 (06): : 652 - 652
  • [26] MUTATIONS IN OSTEOGENESIS IMPERFECTA LEADING TO THE SYNTHESIS OF ABNORMAL TYPE-I PROCOLLAGENS
    PROCKOP, DJ
    CHU, ML
    DEWET, W
    MYERS, JC
    PIHLAJANIEMI, T
    RAMIREZ, F
    SIPPOLA, M
    ANNALS OF THE NEW YORK ACADEMY OF SCIENCES, 1985, 460 : 289 - 297
  • [27] TYPE-I COLLAGEN-SYNTHESIS IN OSTEOGENESIS IMPERFECTA AND IDIOPATHIC OSTEOPOROSIS
    SHAPIRO, JR
    FRAZIER, CF
    FEDARKO, NS
    NIU, C
    PAVLOV, E
    JOURNAL OF BONE AND MINERAL RESEARCH, 1995, 10 : S235 - S235
  • [28] OSTEOGENESIS IMPERFECTA IS LINKED TO BOTH TYPE-I COLLAGEN STRUCTURAL GENES
    SYKES, B
    OGILVIE, D
    WORDSWORTH, P
    ANDERSON, J
    JONES, N
    LANCET, 1986, 2 (8498): : 69 - 72
  • [29] A NEW STRUCTURAL MUTATION IN THE ALPHA-1 (I) COLLAGEN CHAIN FROM A PATIENT WITH TYPE-II OSTEOGENESIS IMPERFECTA (OI)
    STEINMANN, B
    RAO, VH
    VOGEL, A
    GITZELMANN, R
    BYERS, PH
    EUROPEAN JOURNAL OF PEDIATRICS, 1982, 139 (04) : 317 - 317
  • [30] MUTATIONS LINKED TO THE PRO ALPHA-2(I) COLLAGEN GENE ARE RESPONSIBLE FOR SEVERAL CASES OF OSTEOGENESIS IMPERFECTA TYPE-I
    WALLIS, G
    BEIGHTON, P
    BOYD, C
    MATHEW, CG
    JOURNAL OF MEDICAL GENETICS, 1986, 23 (05) : 411 - 416