TYPE-II COLLAGEN DEFECTS IN THE CHONDRODYSPLASIAS .1. SPONDYLOEPIPHYSEAL DYSPLASIAS

被引:0
|
作者
MURRAY, LW
BAUTISTA, J
JAMES, PL
RIMOIN, DL
机构
[1] UNIV SO CALIF,DEPT PHARMACOL,LOS ANGELES,CA 90089
[2] CEDARS SINAI MED CTR,DEPT PEDIAT,LOS ANGELES,CA 90048
关键词
D O I
暂无
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
引用
收藏
页码:5 / 15
页数:11
相关论文
共 50 条
  • [21] Spondyloepiphyseal dysplasia Maroteaux type: Report of three patients from two families and exclusion of type II collagen defects
    Nishimura, G
    Kizu, R
    Kijima, Y
    Sakai, K
    Kawaguchi, Y
    Kimura, T
    Matsushita, I
    Shirahama, S
    Ikeda, T
    Ikegawa, S
    Hasegawa, T
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2003, 120A (04): : 498 - 502
  • [22] MILD SPONDYLOEPIPHYSEAL DYSPLASIA (NAMAQUALAND TYPE) - GENETIC-LINKAGE TO THE TYPE-II COLLAGEN GENE (COL2AL)
    SHER, C
    RAMESAR, R
    MARTELL, R
    LEARMONTH, I
    TSIPOURAS, P
    BEIGHTON, P
    AMERICAN JOURNAL OF HUMAN GENETICS, 1991, 48 (03) : 518 - 524
  • [23] Significant ocular findings are a feature of heritable bone dysplasias resulting from defects in type II collagen
    Meredith, Sarah P.
    Richards, Allan J.
    Bearcroft, Philip
    Pouson, Arabella V.
    Snead, Martin P.
    BRITISH JOURNAL OF OPHTHALMOLOGY, 2007, 91 (09) : 1148 - 1151
  • [24] SUPPRESSION OF TYPE-II COLLAGEN-INDUCED ARTHRITIS BY INTRAGASTRIC ADMINISTRATION OF SOLUBLE TYPE-II COLLAGEN
    NAGLERANDERSON, C
    BOBER, LA
    ROBINSON, ME
    SISKIND, GW
    THORBECKE, GJ
    PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1986, 83 (19) : 7443 - 7446
  • [25] TYPE-II ACHONDROGENESIS-HYPOCHONDROGENESIS - IDENTIFICATION OF ABNORMAL TYPE-II COLLAGEN
    GODFREY, M
    HOLLISTER, DW
    AMERICAN JOURNAL OF HUMAN GENETICS, 1988, 43 (06) : 904 - 913
  • [26] STRUCTURE OF THE TYPE-II COLLAGEN GENE
    UPHOLT, WB
    STROM, CM
    SANDELL, LJ
    ANNALS OF THE NEW YORK ACADEMY OF SCIENCES, 1985, 460 : 130 - 140
  • [27] TYPE-II COLLAGEN DISTRIBUTION IN RODENTS
    YOO, TJ
    TOMODA, K
    LARYNGOSCOPE, 1988, 98 (11): : 1255 - 1260
  • [28] RADIOIMMUNOASSAY FOR HUMAN TYPE-II COLLAGEN
    HENROTIN, Y
    BASSLEER, C
    COLLETTE, J
    NUSGENS, B
    FRANCHIMONT, P
    JOURNAL OF IMMUNOASSAY, 1990, 11 (04): : 555 - 578
  • [29] THE CLINICAL-FEATURES OF SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA RESULTING FROM THE SUBSTITUTION OF GLYCINE-997 BY SERINE IN THE ALPHA-1(II) CHAIN OF TYPE-II COLLAGEN
    COLE, WG
    HALL, RK
    ROGERS, JG
    JOURNAL OF MEDICAL GENETICS, 1993, 30 (01) : 27 - 35
  • [30] PROPERTIES AND DEFECTS OF TYPE-II SUPERCONDUCTORS
    SHI, DG
    MRS BULLETIN, 1991, 16 (12) : 37 - 41