Spondyloepimetaphyseal dysplasia, Missouri variant, is located on chromosome 11q22.3 and is caused by a mutation of matrix metalloproteinase 13 (MMP13).
Үндсэн зохиолчид: | Kennedy, A, Christi, P, Harding, B, Pannett, A, Dearlove, A, Whyte, M, Thakker, R |
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Формат: | Conference item |
Хэвлэсэн: |
2002
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Ижил төстэй зүйлс
Ижил төстэй зүйлс
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MMP13 mutation causes spondyloepimetaphyseal dysplasia, Missouri type (SEMD(MO).
-н: Kennedy, A, зэрэг
Хэвлэсэн: (2005) -
Linkage studies of a Missouri kindred with autosomal dominant spondyloepimetaphyseal dysplasia (SEMD) indicate genetic heterogeneity.
-н: Gertner, J, зэрэг
Хэвлэсэн: (1997) -
Novel RPL13 variants and evidence for incomplete penetrance in a human ribosomopathy with spondyloepimetaphyseal dysplasia
-н: Alice Costantini, зэрэг
Хэвлэсэн: (2020-10-01) -
LINKAGE STUDIES IN A KINDRED WITH AUTOSOMAL-DOMINANT SPONDYLOEPIMETAPHYSEAL DYSPLASIA (SEMD) INDICATE GENETIC-HETEROGENEITY
-н: Gertner, J, зэрэг
Хэвлэсэн: (1995) -
Clinical, genetic and structural delineation of RPL13-related spondyloepimetaphyseal dysplasia suggest extra-ribosomal functions of eL13
-н: Prince Jacob, зэрэг
Хэвлэсэн: (2023-11-01)