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Journal Abstract Search

158 related items for PubMed ID: 30906833

  • 1. A novel mutation in exon 11 of COMP gene in a Chinese family with pseudoachondroplasia.
    Chen J, Zhang W, He J, Zhang R, Cao Y, Liu X.
    Genes Dis; 2019 Mar; 6(1):47-55. PubMed ID: 30906833
    [Abstract] [Full Text] [Related]

  • 2. Novel mutation in exon 18 of the cartilage oligomeric matrix protein gene causes a severe pseudoachondroplasia.
    Mabuchi A, Haga N, Ikeda T, Manabe N, Ohashi H, Takatori Y, Nakamura K, Ikegawa S.
    Am J Med Genet; 2001 Nov 22; 104(2):135-9. PubMed ID: 11746044
    [Abstract] [Full Text] [Related]

  • 3. A Novel COMP Mutated Allele Identified in a Chinese Family with Pseudoachondroplasia.
    Guo BB, Jin JY, Yuan ZZ, Zeng L, Xiang R.
    Biomed Res Int; 2021 Nov 22; 2021():6678531. PubMed ID: 33748277
    [Abstract] [Full Text] [Related]

  • 4. Identification of twelve mutations in cartilage oligomeric matrix protein (COMP) in patients with pseudoachondroplasia.
    Deere M, Sanford T, Ferguson HL, Daniels K, Hecht JT.
    Am J Med Genet; 1998 Dec 28; 80(5):510-3. PubMed ID: 9880218
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  • 5. Identification of novel and recurrent mutations in the calcium binding type III repeats of cartilage oligomeric matrix protein in patients with pseudoachondroplasia.
    Cao LH, Wang LB, Wang SS, Ma HW, Ji CY, Luo Y.
    Genet Mol Res; 2011 May 24; 10(2):955-63. PubMed ID: 21644213
    [Abstract] [Full Text] [Related]

  • 6.
    Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, Briggs MD, Wright MJ.
    ; 1993 May 24. PubMed ID: 20301660
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  • 7. Identification of nine novel mutations in cartilage oligomeric matrix protein in patients with pseudoachondroplasia and multiple epiphyseal dysplasia.
    Deere M, Sanford T, Francomano CA, Daniels K, Hecht JT.
    Am J Med Genet; 1999 Aug 27; 85(5):486-90. PubMed ID: 10405447
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  • 14. Novel and recurrent COMP (cartilage oligomeric matrix protein) mutations in pseudoachondroplasia and multiple epiphyseal dysplasia.
    Ikegawa S, Ohashi H, Nishimura G, Kim KC, Sannohe A, Kimizuka M, Fukushima Y, Nagai T, Nakamura Y.
    Hum Genet; 1998 Dec 27; 103(6):633-8. PubMed ID: 9921895
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  • 15. A novel COMP mutation in a Chinese patient with pseudoachondroplasia.
    Xie X, Liao L, Gao J, Luo X.
    Gene; 2013 Jun 10; 522(1):102-6. PubMed ID: 23562786
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  • 17. A novel mutation of the COMP gene in a Thai family with pseudoachondroplasia.
    Shotelersuk V, Punyashthiti R.
    Int J Mol Med; 2002 Jan 10; 9(1):81-4. PubMed ID: 11745002
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  • 18. A novel COMP mutation in a pseudoachondroplasia family of Chinese origin.
    Dai L, Xie L, Wang Y, Mao M, Li N, Zhu J, Kim C, Zhang Y.
    BMC Med Genet; 2011 May 21; 12():72. PubMed ID: 21599986
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