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

页码：303 / 306

页数：4

共 6 条

[1]

BRIGGS MD, 1994, AM J HUM GENET, V55, P678

[2] PSEUDOACHONDROPLASIA AND MULTIPLE EPIPHYSEAL DYSPLASIA DUE TO MUTATIONS IN THE CARTILAGE OLIGOMERIC MATRIX PROTEIN GENE [J].

BRIGGS, MD ;

HOFFMAN, SMG ;

KING, LM ;

OLSEN, AS ;

MOHRENWEISER, H ;

LEROY, JG ;

MORTIER, GR ;

RIMOIN, DL ;

LACHMAN, RS ;

GAINES, ES ;

CEKLENIAK, JA ;

KNOWLTON, RG ;

COHN, DH .

NATURE GENETICS, 1995, 10 (03) :330-336

[3]

DEERE M, 1995, AM J HUM GENET, V56, P698

[4] MUTATIONS IN EXON 17B OF CARTILAGE OLIGOMERIC MATRIX PROTEIN (COMP) CAUSE PSEUDOACHONDROPLASIA [J].

HECHT, JT ;

NELSON, LD ;

CROWDER, E ;

WANG, Y ;

ELDER, FFB ;

HARRISON, WR ;

FRANCOMANO, CA ;

PRANGE, CK ;

LENNON, GG ;

DEERE, M ;

LAWLER, J .

NATURE GENETICS, 1995, 10 (03) :325-329

[5] A mutation in the gene encoding the alpha 2 chain of the fibril-associated collagen IX, COL9A2, causes multiple epiphyseal dysplasia (EDM2) [J].

Muragaki, Y ;

Mariman, ECM ;

vanBeersum, SEC ;

Perala, M ;

vanMourik, JBA ;

Warman, ML ;

Olsen, BR ;

Hamel, BCJ .

NATURE GENETICS, 1996, 12 (01) :103-105

[6]

OEHLMANN R, 1994, AM J HUM GENET, V54, P3

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