Identification of a locus for a form of spondyloepiphyseal dysplasia on chromosome 15q26.1: exclusion of aggrecan as a candidate gene
about
A missense mutation in the aggrecan C-type lectin domain disrupts extracellular matrix interactions and causes dominant familial osteochondritis dissecans.Terminal deletion of chromosome 15q26.1: case report and brief literature review.ACAN mutations as a cause of familial short stature.A mutation in the variable repeat region of the aggrecan gene (AGC1) causes a form of spondyloepiphyseal dysplasia associated with severe, premature osteoarthritis.
P2860
Identification of a locus for a form of spondyloepiphyseal dysplasia on chromosome 15q26.1: exclusion of aggrecan as a candidate gene
description
2002 nî lūn-bûn
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2002 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
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2002 թվականի սեպտեմբերին հրատարակված գիտական հոդված
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2002年の論文
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2002年論文
@yue
2002年論文
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2002年論文
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2002年論文
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2002年論文
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2002年论文
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name
Identification of a locus for ...... f aggrecan as a candidate gene
@ast
Identification of a locus for ...... f aggrecan as a candidate gene
@en
type
label
Identification of a locus for ...... f aggrecan as a candidate gene
@ast
Identification of a locus for ...... f aggrecan as a candidate gene
@en
prefLabel
Identification of a locus for ...... f aggrecan as a candidate gene
@ast
Identification of a locus for ...... f aggrecan as a candidate gene
@en
P2093
P2860
P356
P1476
Identification of a locus for ...... f aggrecan as a candidate gene
@en
P2093
K Spreckley
L Al-Gazali
P Beighton
R Aspinwall
P2860
P304
P356
10.1136/JMG.39.9.634
P407
P577
2002-09-01T00:00:00Z