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COMP (Cartilage oligomeric matrix protein) is structurally related to the thrombospondins
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A single chain 19-kD fragment from bovine thrombospondin binds to type V collagen and heparin
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Characterization of human and mouse cartilage oligomeric matrix protein
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Genetic linkage of mild pseudoachondroplasia (PSACH) to markers in the pericentromeric region of chromosome 19
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Linkage of typical pseudoachondroplasia to chromosome 19
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Genetic linkage mapping of multiple epiphyseal dysplasia to the pericentromeric region of chromosome 19
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Mutations in the cartilage oligomeric matrix protein (COMP) gene in pseudoachondroplasia and multiple epiphyseal dysplasia
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Cohn DH, Briggs MD, King LM, Rimoin DL, Wilcox WR, Lachman RS. Mutations in the cartilage oligomeric matrix protein (COMP) gene in pseudoachondroplasia and multiple epiphyseal dysplasia. Ann NY Acad Sci. 785:1996;188-194.
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Multiple epiphyseal dysplasia, Ribbing type: A novel point mutation in the COMP gene in a South African family
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Ballo R, Briggs MD, Cohn DH, Knowlton RG, Beighton PH, Ramesar RS. Multiple epiphyseal dysplasia, Ribbing type: a novel point mutation in the COMP gene in a South African family. Am J Hum Genet. 68:1997;396-400.
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Multiple epiphyseal dysplasia and pseudoachondroplasia due to novel mutations in the calmodulin-like repeats of cartilage oligomeric matrix protein
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Susic S, McGrory J, Ahier J, Cole WG. Multiple epiphyseal dysplasia and pseudoachondroplasia due to novel mutations in the calmodulin-like repeats of cartilage oligomeric matrix protein. Clin Genet. 51:1997;219-224.
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Susic, S.1
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Novel and recurrent COMP (cartilage oligomeric matrix protein) mutations in pseudoachondroplasia and multiple epiphyseal dysplasia
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Ikegawa S, Ohashi H, Nishimura G, Kim KC, Sannohe A, Kimizuka M. Novel and recurrent COMP (cartilage oligomeric matrix protein) mutations in pseudoachondroplasia and multiple epiphyseal dysplasia. Hum Genet. 103:1998;633-638.
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Identification of five novel mutations in cartilage oligomeric matrix protein gene in pseudoachondroplasia and multiple epiphyseal dysplasia
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Loughlin J, Irven C, Mustafa Z, Briggs MD, Carr A, Lynch SA. Identification of five novel mutations in cartilage oligomeric matrix protein gene in pseudoachondroplasia and multiple epiphyseal dysplasia. Human Mutation. Suppl 1:1998;S10-7.
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Identification of twelve mutations in cartilage oligomeric matrix protein (COMP) in patients with pseudoachondroplasia
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Deere M, Sanford T, Ferguson JL, Daniels K, Hecht JT. Identification of twelve mutations in cartilage oligomeric matrix protein (COMP) in patients with pseudoachondroplasia. Am J Med Genet. 80:1998;510-513.
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15
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Diverse mutations in the gene for cartilage oligomeric matrix protein in the pseudoachondroplasia-multiple epiphyseal dysplasia disease spectrum
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Briggs MD, Mortier GR, Cole WG, King LM, Golik SS, Bonaventure J. Diverse mutations in the gene for cartilage oligomeric matrix protein in the pseudoachondroplasia-multiple epiphyseal dysplasia disease spectrum. Am J Hum Genet. 62:1998;311-319.
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16
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Pseudoachondroplasia due to the substitution of the highly conserved Asp482 by Gly in the seventh calmodulin-like repeat of cartilage oligomeric matrix protein
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Susic S, Ahier J, Cole WG. Pseudoachondroplasia due to the substitution of the highly conserved Asp482 by Gly in the seventh calmodulin-like repeat of cartilage oligomeric matrix protein. Hum Mutation. Suppl 1:1998;S125-7.
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