A mutation in COL9A2 causes multiple epiphyseal dysplasia (EDM2)

Annals of the New York Academy of Sciences

Volumn 785, Issue , 1996, Pages 303-306

  Muragaki, Yasuteru ^a   Mariman, Edwin C M ^b   Van Beersum, Sylvia E C ^b   Perälä, Merja ^c   Van Mourik, Jan B A ^d   Warman, Matthew L ^e   Hamel, Ben C J ^b   Olsen, Bjorn R ^a  

^a HARVARD MEDICAL SCHOOL   (United States)

^b RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^c UNIVERSITY OF TURKU   (Finland)

^d ST JOSEPH HOSPITAL   (Netherlands)

^e CASE WESTERN RESERVE UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

COLLAGEN; COLLAGEN TYPE 9; COMPLEMENTARY DNA;

ALLELE; BONE DYSPLASIA; CONFERENCE PAPER; EPIPHYSIS; GENE LOCUS; GENE MUTATION; GENE SEQUENCE; HUMAN; OSTEOARTHRITIS; PROTEIN DOMAIN; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SHORT STATURE;

EID: 0029761457     PISSN: 00778923     EISSN: None     Source Type: Book Series    
DOI: 10.1111/j.1749-6632.1996.tb56291.x     Document Type: Conference Paper

References (6)

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2. BRIGGS, M. D., H. CHOI, M. W. WARMAN, J. A. LOUGHLIN, P. WORDSWORTH, B. C. SYKES, C. M. M. IRVEN, M. SMITH, R. WYNNE-DAVIES, M. H. LIPSON, L. G. BIESECKER, A. P. GARBER, R. LACHMAN, B. R. OLSEN, D. L. RIMOIN & D. H. COHN. 1994. Genetic mapping of a locus for multiple epiphyseal dysplasia (EDM2) to a region of chromosome 1 containing a type IX collagen gene. Am. J. Hum. Genet. 55: 678-684.
3. DEERE, M., S. H. BLANTON, C. I. SCOTT, L. O. LANGER, R. M. PAULI & J. T. HECHT. 1995. Genetic heterogeneity in multiple epiphyseal dysplasia. Am. J. Hum. Genet. 56: 698-704.
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5. BRIGGS, M. D., S. M. G. HOFFMAN, L. M. KING, A. S. OLSEN, H. MOHREWEISER, J. G. LEROY, G. R. MORTIER, D. L. RIMOIN, R. S. LACHMAN, E. S. GAINES, J. A. CEKLENIAK, R. G. KNOWLTON & D. H. COHN. 1995. Pseudoachondroplasia and multiple epiphyseal dysplasia due to mutations in the cartilage oligomeric matrix protein gene. Nature Genet. 10: 330-336.
6. MURAGAKI, Y., E. C. M. MARIMAN, S. E. C. VAN BEERSUM, M. PERÄLÄ, J. B. A. VAN MOURIK, M. L. WARMAN, B. R. OLSEN & B. C. J. HAMEL. 1996. A mutation in the gene encoding the a2 chain of the fibril-associated collagen IX, COL9A2, causes multiple epiphyseal dysplasia (EDM2). Nature Genet. 12: 103-105.