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Spondyloepimetaphyseal dysplas...
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Easpórtáil taifead
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Buan-nasc
Spondyloepimetaphyseal dysplasia, Missouri variant, is located on chromosome 11q22.3 and is caused by a mutation of matrix metalloproteinase 13 (MMP13).
Sonraí bibleagrafaíochta
Príomhchruthaitheoirí:
Kennedy, A
,
Christi, P
,
Harding, B
,
Pannett, A
,
Dearlove, A
,
Whyte, M
,
Thakker, R
Formáid:
Conference item
Foilsithe / Cruthaithe:
2002
Stoc
Cur síos
Míreanna comhchosúla
Amharc foirne
Míreanna comhchosúla
MMP13 mutation causes spondyloepimetaphyseal dysplasia, Missouri type (SEMD(MO).
de réir: Kennedy, A, et al.
Foilsithe / Cruthaithe: (2005)
Linkage studies of a Missouri kindred with autosomal dominant spondyloepimetaphyseal dysplasia (SEMD) indicate genetic heterogeneity.
de réir: Gertner, J, et al.
Foilsithe / Cruthaithe: (1997)
Novel RPL13 variants and evidence for incomplete penetrance in a human ribosomopathy with spondyloepimetaphyseal dysplasia
de réir: Alice Costantini, et al.
Foilsithe / Cruthaithe: (2020-10-01)
LINKAGE STUDIES IN A KINDRED WITH AUTOSOMAL-DOMINANT SPONDYLOEPIMETAPHYSEAL DYSPLASIA (SEMD) INDICATE GENETIC-HETEROGENEITY
de réir: Gertner, J, et al.
Foilsithe / Cruthaithe: (1995)
Clinical, genetic and structural delineation of RPL13-related spondyloepimetaphyseal dysplasia suggest extra-ribosomal functions of eL13
de réir: Prince Jacob, et al.
Foilsithe / Cruthaithe: (2023-11-01)