MUTATIONS IN THE COL1A1 GENE OF TYPE-I COLLAGEN PRODUCE OSTEOGENESIS IMPERFECTA TYPE-I

被引：0
作者：
WILLING, M
SHRIDHARANI, S
SLAYTON, R
BYERS, P
机构：
[1] UNIV IOWA,IOWA CITY,IA 52242
[2] UNIV WASHINGTON,SEATTLE,WA 98195
来源：
AMERICAN JOURNAL OF HUMAN GENETICS | 1993年 / 53卷 / 03期
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：740 / 740
页数：1
相关论文
共 50 条
  • [41] BONE FRAGILITY IN TRANSGENIC MICE EXPRESSING A MUTATED GENE FOR TYPE-I PROCOLLAGEN (COL1A1) PARALLELS THE AGE-DEPENDENT PHENOTYPE OF HUMAN OSTEOGENESIS IMPERFECTA
    PEREIRA, RF
    HUME, EL
    HALFORD, KW
    PROCKOP, DJ
    JOURNAL OF BONE AND MINERAL RESEARCH, 1995, 10 (12) : 1837 - 1843
  • [42] PCR DETECTION OF 5 RESTRICTION SITE DIMORPHISMS AT THE TYPE-I COLLAGEN LOCI COL1A1 AND COL1A2
    BAKER, R
    LYNCH, J
    FERGUSON, L
    PRIESTLEY, L
    SYKES, B
    NUCLEIC ACIDS RESEARCH, 1991, 19 (15) : 4315 - 4315
  • [43] TYPE-I AORTIC DISSECTION IN A PATIENT WITH OSTEOGENESIS IMPERFECTA
    ASHRAF, SS
    SHAUKAT, N
    MASOOD, M
    LYONS, TJ
    KEENAN, DJM
    EUROPEAN JOURNAL OF CARDIO-THORACIC SURGERY, 1993, 7 (12) : 665 - 666
  • [44] OSTEOGENESIS IMPERFECTA (OI) - INCREASED POSTTRANSLATIONAL MODIFICATION OF ABNORMAL TYPE-I COLLAGEN
    RAO, VH
    STEINMANN, B
    GITZELMANN, R
    EXPERIENTIA, 1984, 40 (06): : 652 - 652
  • [45] STRUCTURAL STUDY OF A MUTANT TYPE-I COLLAGEN FROM A PATIENT WITH OSTEOGENESIS IMPERFECTA
    TRAUB, W
    STEINMANN, B
    BONE, 1986, 7 (05) : 417 - 417
  • [46] OSTEOGENESIS IMPERFECTA TYPE-I WITH UNUSUAL DENTAL ABNORMALITIES
    LEVIN, LS
    YOUNG, RJ
    PYERITZ, RE
    AMERICAN JOURNAL OF MEDICAL GENETICS, 1988, 31 (04): : 921 - 932
  • [47] BONE TURNOVER IS LOW IN TYPE-I OSTEOGENESIS IMPERFECTA
    SHAPIRO, JR
    MCCARTHY, EF
    EARNEST, K
    COPLEY, C
    ROSSITER, K
    JOURNAL OF BONE AND MINERAL RESEARCH, 1995, 10 : S301 - S301
  • [48] Osteogenesis Imperfecta Type I Caused by a Novel Mutation in the Start Codon of the COL1A1 Gene in a Korean Family
    Cho, Sung Yoon
    Lee, Ji-Ho
    Ki, Chang-Seok
    Chang, Mi Sun
    Jin, Dong-Kyu
    Han, Heon-Seok
    ANNALS OF CLINICAL AND LABORATORY SCIENCE, 2015, 45 (01) : 100 - 105
  • [49] MUTATIONS IN THE CARBOXYL-TERMINAL PROPEPTIDE OF THE PRO-ALPHA-1(I) CHAIN OF TYPE-I COLLAGEN RESULT IN DEFECTIVE CHAIN ASSOCIATION AND PRODUCE LETHAL OSTEOGENESIS IMPERFECTA
    CHESSLER, SD
    WALLIS, GA
    BYERS, PH
    JOURNAL OF BIOLOGICAL CHEMISTRY, 1993, 268 (24) : 18218 - 18225
  • [50] Nonsense mutations in the COL1A1 gene preferentially reduce nuclear levels of mRNA but not hnRNA in osteogenesis imperfecta type I cell strains
    Slayton, RL
    Deschenes, SP
    Willing, MC
    MATRIX BIOLOGY, 2000, 19 (01) : 1 - 9
12345