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  • Spondyloepimetaphyseal dysplas...
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Spondyloepimetaphyseal dysplasia, Missouri variant, is located on chromosome 11q22.3 and is caused by a mutation of matrix metalloproteinase 13 (MMP13).

Spondyloepimetaphyseal dysplasia, Missouri variant, is located on chromosome 11q22.3 and is caused by a mutation of matrix metalloproteinase 13 (MMP13).

Manylion Llyfryddiaeth
Prif Awduron: Kennedy, A, Christi, P, Harding, B, Pannett, A, Dearlove, A, Whyte, M, Thakker, R
Fformat: Conference item
Cyhoeddwyd: 2002
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Eitemau Tebyg

  • MMP13 mutation causes spondyloepimetaphyseal dysplasia, Missouri type (SEMD(MO).
    gan: Kennedy, A, et al.
    Cyhoeddwyd: (2005)
  • Linkage studies of a Missouri kindred with autosomal dominant spondyloepimetaphyseal dysplasia (SEMD) indicate genetic heterogeneity.
    gan: Gertner, J, et al.
    Cyhoeddwyd: (1997)
  • Novel RPL13 variants and evidence for incomplete penetrance in a human ribosomopathy with spondyloepimetaphyseal dysplasia
    gan: Alice Costantini, et al.
    Cyhoeddwyd: (2020-10-01)
  • LINKAGE STUDIES IN A KINDRED WITH AUTOSOMAL-DOMINANT SPONDYLOEPIMETAPHYSEAL DYSPLASIA (SEMD) INDICATE GENETIC-HETEROGENEITY
    gan: Gertner, J, et al.
    Cyhoeddwyd: (1995)
  • Clinical, genetic and structural delineation of RPL13-related spondyloepimetaphyseal dysplasia suggest extra-ribosomal functions of eL13
    gan: Prince Jacob, et al.
    Cyhoeddwyd: (2023-11-01)

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