MUTATIONS LINKED TO THE PRO ALPHA-2(I) COLLAGEN GENE ARE RESPONSIBLE FOR SEVERAL CASES OF OSTEOGENESIS IMPERFECTA TYPE-I

被引:29
作者
WALLIS, G
BEIGHTON, P
BOYD, C
MATHEW, CG
机构
[1] UNIV MED & DENT NEW JERSEY,RUTGERS MED SCH,DEPT SURG,NEW BRUNSWICK,NJ 08903
[2] UNIV STELLENBOSCH,SCH MED,MRC,MOLEC & CELLULAR CARDIOL RES UNIT,TYGERBERG 7505,SOUTH AFRICA
关键词
D O I
10.1136/jmg.23.5.411
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
引用
收藏
页码:411 / 416
页数:6
相关论文
共 31 条
  • [1] BARSH GS, 1982, P NATL ACAD SCI-BIOL, V79, P3838, DOI 10.1073/pnas.79.12.3838
  • [2] BEIGHTON P, 1983, S AFR MED J, V64, P565
  • [3] STRUCTURE OF A CDNA FOR THE PRO-ALPHA2 CHAIN OF HUMAN TYPE-I PROCOLLAGEN - COMPARISON WITH CHICK CDNA FOR PROALPHA2(I) IDENTIFIES STRUCTURALLY CONSERVED FEATURES OF THE PROTEIN AND THE GENE
    BERNARD, MP
    MYERS, JC
    CHU, ML
    RAMIREZ, F
    EIKENBERRY, EF
    PROCKOP, DJ
    [J]. BIOCHEMISTRY, 1983, 22 (05) : 1139 - 1145
  • [4] BOTHA MC, 1972, S AFR MED J S, V1, P1
  • [5] 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
  • [6] OSTEOGENESIS IMPERFECTA - UPDATE AND PERSPECTIVE
    BYERS, PH
    BONADIO, JF
    STEINMANN, B
    [J]. AMERICAN JOURNAL OF MEDICAL GENETICS, 1984, 17 (02): : 429 - 435
  • [7] BYERS PM, INT MED REV PAEDIATR, V5
  • [8] DALGLEISH R, 1982, J BIOL CHEM, V257, P13816
  • [9] DEAK SB, 1983, J BIOL CHEM, V258, P5192
  • [10] DEWET WJ, 1983, J BIOL CHEM, V258, P7721