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Journal Abstract Search

102 related items for PubMed ID: 9452022

  • 1. Low basal transcripts of the COL2A1 collagen gene from lymphoblasts show alternative splicing of exon 12 in the Kniest form of spondyloepiphyseal dysplasia.
    Yang W, Cole WG.
    Hum Mutat; 1998; Suppl 1():S1-2. PubMed ID: 9452022
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  • 4. Low basal transcription of genes for tissue-specific collagens by fibroblasts and lymphoblastoid cells. Application to the characterization of a glycine 997 to serine substitution in alpha 1(II) collagen chains of a patient with spondyloepiphyseal dysplasia.
    Chan D, Cole WG.
    J Biol Chem; 1991 Jul 05; 266(19):12487-94. PubMed ID: 1905723
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  • 6. [Effect of a novel splicing mutation (IVS2-2A-->C) of SEDL gene on RNA processing].
    Luo Q, Gao C, Wang HL, Zhou JH, Gao TZ.
    Yi Chuan; 2005 Jul 05; 27(4):544-8. PubMed ID: 16120574
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  • 8. An RNA-splicing mutation (G+5IVS20) in the type II collagen gene (COL2A1) in a family with spondyloepiphyseal dysplasia congenita.
    Tiller GE, Weis MA, Polumbo PA, Gruber HE, Rimoin DL, Cohn DH, Eyre DR.
    Am J Hum Genet; 1995 Feb 05; 56(2):388-95. PubMed ID: 7847372
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  • 9. Kniest and Stickler dysplasia phenotypes caused by collagen type II gene (COL2A1) defect.
    Winterpacht A, Hilbert M, Schwarze U, Mundlos S, Spranger J, Zabel BU.
    Nat Genet; 1993 Apr 05; 3(4):323-6. PubMed ID: 7981752
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  • 10. Tandem duplication within a type II collagen gene (COL2A1) exon in an individual with spondyloepiphyseal dysplasia.
    Tiller GE, Rimoin DL, Murray LW, Cohn DH.
    Proc Natl Acad Sci U S A; 1990 May 05; 87(10):3889-93. PubMed ID: 2339128
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  • 12. Small deletions in the type II collagen triple helix produce kniest dysplasia.
    Wilkin DJ, Artz AS, South S, Lachman RS, Rimoin DL, Wilcox WR, McKusick VA, Stratakis CA, Francomano CA, Cohn DH.
    Am J Med Genet; 1999 Jul 16; 85(2):105-12. PubMed ID: 10406661
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  • 13. A single amino acid substitution (G103D) in the type II collagen triple helix produces Kniest dysplasia.
    Wilkin DJ, Bogaert R, Lachman RS, Rimoin DL, Eyre DR, Cohn DH.
    Hum Mol Genet; 1994 Nov 16; 3(11):1999-2003. PubMed ID: 7874117
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  • 16. The sedlin gene for spondyloepiphyseal dysplasia tarda escapes X-inactivation and contains a non-canonical splice site.
    Mumm S, Zhang X, Vacca M, D'Esposito M, Whyte MP.
    Gene; 2001 Aug 08; 273(2):285-93. PubMed ID: 11595175
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  • 17. A novel splice site mutation (3157+1G>T) in the dystrophin gene causing total exon skipping and DMD phenotype.
    Sironi M, Corti S, Locatelli F, Cagliani R, Comi GP.
    Hum Mutat; 2001 Mar 08; 17(3):239. PubMed ID: 11241855
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  • 19. COL9A3: A third locus for multiple epiphyseal dysplasia.
    Paassilta P, Lohiniva J, Annunen S, Bonaventure J, Le Merrer M, Pai L, Ala-Kokko L.
    Am J Hum Genet; 1999 Apr 08; 64(4):1036-44. PubMed ID: 10090888
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