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Journal Abstract Search

118 related items for PubMed ID: 2899976

  • 1. Achondroplasia is not caused by mutation in the gene for type II collagen.
    Francomano CA, Pyeritz RE.
    Am J Med Genet; 1988 Apr; 29(4):955-61. PubMed ID: 2899976
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  • 5. Autosomal dominant (Beukes) premature degenerative osteoarthropathy of the hip joint unlinked to COL2A1.
    Beighton P, Cilliers HJ, Ramesar R.
    Am J Med Genet; 1994 Dec 01; 53(4):348-51. PubMed ID: 7864044
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  • 6. Linkage studies of a Missouri kindred with autosomal dominant spondyloepimetaphyseal dysplasia (SEMD) indicate genetic heterogeneity.
    Gertner JM, Whyte MP, Dixon PH, Pang JT, Trump D, Pearce SH, Wooding C, Thakker RV.
    J Bone Miner Res; 1997 Aug 01; 12(8):1204-9. PubMed ID: 9258750
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  • 11. Alternative splicing of exon 12 of the COL2A1 gene interrupts the triple helix of type-II collagen in the Kniest form of spondyloepiphyseal dysplasia.
    Chen L, Yang W, Cole WG.
    J Orthop Res; 1996 Sep 01; 14(5):712-21. PubMed ID: 8893763
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  • 15. A common FGFR3 gene mutation is present in achondroplasia but not in hypochondroplasia.
    Stoilov I, Kilpatrick MW, Tsipouras P.
    Am J Med Genet; 1995 Jan 02; 55(1):127-33. PubMed ID: 7702086
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  • 20. Cartilage-hair hypoplasia gene assigned to chromosome 9 by linkage analysis.
    Sulisalo T, Sistonen P, Hästbacka J, Wadelius C, Mäkitie O, de la Chapelle A, Kaitila I.
    Nat Genet; 1993 Apr 02; 3(4):338-41. PubMed ID: 7981754
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