A mutation in COL9A2 causes multiple epiphyseal dysplasia (EDMZ)

被引:13
作者
Muragaki, Y
Mariman, ECM
VanBeersum, SEC
Perala, M
VanMourik, JBA
Warman, ML
Hamel, CJ
Olsen, BR
机构
[1] UNIV NIJMEGEN HOSP,DEPT HUMAN GENET,NL-6500 HB NIJMEGEN,NETHERLANDS
[2] UNIV TURKU,DEPT MED BIOCHEM,SF-20520 TURKU,FINLAND
[3] ST JOSEPH HOSP,DEPT ORTHOPAED SURG,NL-5500 MB VELDHOVEN,NETHERLANDS
[4] CASE WESTERN RESERVE UNIV,SCH MED,DEPT GENET,CLEVELAND,OH 44106
来源
MOLECULAR AND DEVELOPMENTAL BIOLOGY OF CARTILAGE | 1996年 / 785卷
关键词
D O I
10.1111/j.1749-6632.1996.tb56291.x
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:303 / 306
页数:4
相关论文
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  • [5] A mutation in the gene encoding the alpha 2 chain of the fibril-associated collagen IX, COL9A2, causes multiple epiphyseal dysplasia (EDM2)
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    Mariman, ECM
    vanBeersum, SEC
    Perala, M
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    Warman, ML
    Olsen, BR
    Hamel, BCJ
    [J]. NATURE GENETICS, 1996, 12 (01) : 103 - 105
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