AN ALABAMA FAMILY WITH SEVERS OSTEOARTHRITIS OF THE HIPS, MILD SPONDYLOEPIPHYSEAL DYSPLASIA AND PRECOCIOUS OSTEOARTHRITIS IN OTHER SITES HAS A POINT MUTATION IN ONE ALLELE OF THE TYPE-II PROCOLLAGEN GENE (COL2A1)

被引:0
|
作者
MCLAIN, DA
MURPHY, WA
PROCKOP, DJ
WILLIAMS, CJ
机构
[1] BIRMINGHAM RHEUMATOL,BIRMINGHAM,AL
[2] UNIV TEXAS,MD ANDERSON CANC CTR,HOUSTON,TX
[3] THOMAS JEFFERSON UNIV,INST MOLEC MED,DEPT BIOCHEM & MOLEC BIOL,PHILADELPHIA,PA 19107
来源
ARTHRITIS AND RHEUMATISM | 1995年 / 38卷 / 09期
关键词
D O I
暂无
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
引用
收藏
页码:44 / 44
页数:1
相关论文
共 26 条
  • [1] AN ALABAMA FAMILY WITH SEVERE OSTEOARTHRITIS OF THE HIPS, MILD SPONDYLOEPIPHYSEAL DYSPLASIA AND PRECOCIOUS OSTEOARTHRITIS IN OTHER SITES HAS A POINT MUTATION IN ONE ALLELE OF THE TYPE-II PROCOLLAGEN GENE (COL2A1)
    MCLAIN, DA
    MURPHY, WA
    PROCKOP, DJ
    WILLIAMS, CJ
    ARTHRITIS AND RHEUMATISM, 1995, 38 (06): : R25 - R25
  • [2] SPONDYLOEPIPHYSEAL DYSPLASIA AND PRECOCIOUS OSTEOARTHRITIS IN A FAMILY WITH AN ARG(75)-]CYS MUTATION IN THE PROCOLLAGEN TYPE-II GENE (COL2A1)
    WILLIAMS, CJ
    CONSIDINE, EL
    KNOWLTON, RG
    REGINATO, A
    NEUMANN, G
    HARRISON, D
    BUXTON, P
    JIMENEZ, S
    PROCKOP, DJ
    HUMAN GENETICS, 1993, 92 (05) : 499 - 505
  • [3] TYPE-II PROCOLLAGEN GENE (COL2A1) MUTATION IN EXON-11 ASSOCIATED WITH SPONDYLOEPIPHYSEAL DYSPLASIA, TALL STATURE AND PRECOCIOUS OSTEOARTHRITIS
    BLEASEL, JF
    BISAGNIFAURE, A
    HOLDERBAUM, D
    VACHERLAVENU, MC
    HAQQI, TM
    MOSKOWITZ, RW
    MENKES, CJ
    JOURNAL OF RHEUMATOLOGY, 1995, 22 (02) : 255 - 261
  • [4] FAMILIAL PRECOCIOUS OSTEOARTHRITIS (POA) SPONDYLOEPIPHYSEAL DYSPLASIA (SED) AND CALCIUM PYROPHOSPHATE DEPOSITION DISEASE (CPPD) LINKED TO A POINT MUTATION IN TYPE-II PROCOLLAGEN GENE (COL2A1)
    BASUALDO, J
    MUNOZ, S
    REGINATO, AJ
    WILLIAMS, CJ
    PROCKOP, DJ
    ARTHRITIS AND RHEUMATISM, 1993, 36 (09): : S63 - S63
  • [5] Osteoarthritis in children associated with a mutation in the type II procollagen gene (COL2A1)
    Mier, RJ
    Holderbaum, D
    Ferguson, R
    Moskowitz, R
    PEDIATRIC RESEARCH, 2000, 47 (04) : 242A - 242A
  • [6] Osteoarthritis in children associated with a mutation in the type II procollagen gene (COL2A1)
    Mier, RJ
    Holderbaum, D
    Ferguson, R
    Moskowitz, R
    MOLECULAR GENETICS AND METABOLISM, 2001, 74 (03) : 338 - 341
  • [7] SINGLE BASE MUTATION IN THE TYPE-II PROCOLLAGEN GENE (COL2A1) AS A CAUSE OF PRIMARY OSTEOARTHRITIS ASSOCIATED WITH A MILD CHONDRODYSPLASIA
    ALAKOKKO, L
    BALDWIN, CT
    MOSKOWITZ, RW
    PROCKOP, DJ
    PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1990, 87 (17) : 6565 - 6568
  • [8] SINGLE BASE MUTATION IN THE TYPE-II PROCOLLAGEN GENE (COL2A1) AS A CAUSE OF PRIMARY OSTEOARTHRITIS ASSOCIATED WITH MILD CHONDRODYSPLASIA
    ALAKOKKO, L
    BALDWIN, CT
    MOSKOWITZ, RW
    PROCKOP, DJ
    CLINICAL RESEARCH, 1990, 38 (02): : A317 - A317
  • [9] GENETIC-LINKAGE OF A POLYMORPHISM IN THE TYPE-II PROCOLLAGEN GENE (COL2A1) TO PRIMARY OSTEOARTHRITIS ASSOCIATED WITH MILD CHONDRODYSPLASIA
    KNOWLTON, RG
    KATZENSTEIN, PL
    MOSKOWITZ, RW
    WEAVER, EJ
    MALEMUD, CJ
    PATHRIA, MN
    JIMENEZ, SA
    PROCKOP, DJ
    NEW ENGLAND JOURNAL OF MEDICINE, 1990, 322 (08): : 526 - 530
  • [10] SPONDYLOEPIPHYSEAL DYSPLASIA IN A CAPE-TOWN FAMILY - LINKAGE WITH THE GENE FOR TYPE-II COLLAGEN (COL2A1)
    RAMESAR, R
    BEIGHTON, P
    AMERICAN JOURNAL OF MEDICAL GENETICS, 1992, 43 (05): : 833 - 838