IDENTIFICATION OF A MUTATION IN TYPE-X COLLAGEN IN A FAMILY WITH SCHMID METAPHYSEAL CHONDRODYSPLASIA

被引:32
作者
DHARMAVARAM, RM
ELBERSON, MA
PENG, MH
KIRSON, LA
KELLEY, TE
JIMENEZ, SA
机构
[1] THOMAS JEFFERSON UNIV,DEPT MED,DIV RHEUMATOL,PHILADELPHIA,PA 19107
[2] UNIV VIRGINIA,MED CTR,DIV MED GENET,CHARLOTTESVILLE,VA 22908
关键词
D O I
10.1093/hmg/3.3.507
中图分类号
Q5 [生物化学]; Q7 [分子生物学];
学科分类号
071010 ; 081704 ;
摘要
引用
收藏
页码:507 / 509
页数:3
相关论文
共 10 条
  • [1] FOLDING MECHANISM OF THE TRIPLE HELIX IN TYPE-III COLAGEN AND TYPE-III PN-COLLAGEN - ROLE OF DISULFIDE BRIDGES AND PEPTIDE-BOND ISOMERIZATION
    BACHINGER, HP
    BRUCKNER, P
    TIMPL, R
    PROCKOP, DJ
    ENGEL, J
    [J]. EUROPEAN JOURNAL OF BIOCHEMISTRY, 1980, 106 (02): : 619 - 632
  • [2] POLYMERASE CHAIN-REACTION - AMPLIFICATION OF THE CODING SEQUENCE OF THE TYPE-X COLLAGEN GENE FROM GENOMIC DNA AND IDENTIFICATION OF A POLYMORPHISM THAT CHANGES GLY TO ARG AT POSITION 545 BY SINGLE-STRAND CONFORMATION POLYMORPHISM ANALYSIS
    DHARMAVARAM, RM
    PENG, MZ
    STRAWBRIDGE, RR
    JIMENEZ, SA
    [J]. BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, 1992, 187 (01) : 420 - 424
  • [3] SPONDYLOMETAPHYSEAL DYSPLASIA IN MICE CARRYING A DOMINANT-NEGATIVE MUTATION IN A MATRIX PROTEIN-SPECIFIC FOR CARTILAGE-TO-BONE TRANSITION
    JACENKO, O
    LUVALLE, PA
    OLSEN, BR
    [J]. NATURE, 1993, 365 (6441) : 56 - 61
  • [4] METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE CLINICAL AND RADIOGRAPHIC DELINEATION WITH A REVIEW OF THE LITERATURE
    LACHMAN, RS
    RIMOIN, DL
    SPRANGER, J
    [J]. PEDIATRIC RADIOLOGY, 1988, 18 (02) : 93 - 102
  • [5] Maniatis T., 1982, MOL CLONING
  • [6] MCINTOSH I, 1993, OCT AM J HUM GEN ANN, V53, pA1201
  • [7] SCHMID TM, 1987, STRUCTURE FUNCTION C, P223
  • [8] THE HUMAN COLLAGEN X-GENE - COMPLETE PRIMARY TRANSLATED SEQUENCE AND CHROMOSOMAL LOCALIZATION
    THOMAS, JT
    CRESSWELL, CJ
    RASH, B
    NICOLAI, H
    JONES, T
    SOLOMON, E
    GRANT, ME
    BOOTHANDFORD, RP
    [J]. BIOCHEMICAL JOURNAL, 1991, 280 : 617 - 623
  • [9] ISOLATION OF CDNAS ENCODING THE COMPLETE SEQUENCE OF BOVINE TYPE-X COLLAGEN - EVIDENCE FOR THE CONDENSED NATURE OF MAMMALIAN TYPE-X COLLAGEN GENES
    THOMAS, JT
    KWAN, APL
    GRANT, ME
    BOOTHANDFORD, RP
    [J]. BIOCHEMICAL JOURNAL, 1991, 273 : 141 - 148
  • [10] A TYPE-X COLLAGEN MUTATION CAUSES SCHMID METAPHYSEAL CHONDRODYSPLASIA
    WARMAN, ML
    ABBOTT, M
    APTE, SS
    HEFFERON, T
    MCINTOSH, I
    COHN, DH
    HECHT, JT
    OLSEN, BR
    FRANCOMANO, CA
    [J]. NATURE GENETICS, 1993, 5 (01) : 79 - 82