Mutation screening of the EXT1 and EXT2 genes in patients with hereditary multiple exostoses
about
The putative tumor suppressors EXT1 and EXT2 form a stable complex that accumulates in the Golgi apparatus and catalyzes the synthesis of heparan sulfateMutations in the EXT1 and EXT2 genes in hereditary multiple exostoses.EXT-mutation analysis and loss of heterozygosity in sporadic and hereditary osteochondromas and secondary chondrosarcomas.Genotype-phenotype correlation in hereditary multiple exostosesWidely distributed mutations in the COL2A1 gene produce achondrogenesis type II/hypochondrogenesisMolecular basis of multiple exostoses: mutations in the EXT1 and EXT2 genesMutation frequencies of EXT1 and EXT2 in 43 Japanese families with hereditary multiple exostoses.Multiple osteochondromas: clinicopathological and genetic spectrum and suggestions for clinical management.Etiological point mutations in the hereditary multiple exostoses gene EXT1: a functional analysis of heparan sulfate polymerase activityMutant EXT1 in Taiwanese Patients with Multiple Hereditary Exostoses.Genetics of Plasminogen Activator Inhibitor-1 (PAI-1) in a Ghanaian PopulationSystematic interactome mapping of acute lymphoblastic leukemia cancer gene products reveals EXT-1 tumor suppressor as a Notch1 and FBWX7 common interactorMutations in the EXT1 and EXT2 genes in Spanish patients with multiple osteochondromas.Can Multiple Hereditary Exostoses Overlap With Mesomelic Dysplasia?Identification of a new mutation in an Iranian family with hereditary multiple osteochondromasMalignant progression in two children with multiple osteochondromasOsteochondroma and Spinal Cord Compression in a Patient With Hereditary Multiple Exostoses: A Case Report.Defective EXT2 (in EXT1:EXT2) does not transfer GlcA to heparanDefective EXT2 (in EXT1:EXT2) does not transfer GlcNAc to the heparan chainThe concise handbook of family cancer syndromes. Mayo Familial Cancer Program.Defective EXT2 (in EXT1:EXT2) does not transfer GlcNAc to heparanAnalysis of mutations in EXT1 and EXT2 in Brazilian patients with multiple osteochondromas.Defective EXT2 (in EXT1:EXT2) does not transfer GlcA to heparan_R-HSA-3656237
P2860
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P2860
Mutation screening of the EXT1 and EXT2 genes in patients with hereditary multiple exostoses
description
1997 nî lūn-bûn
@nan
1997 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
1997 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
1997年の論文
@ja
1997年論文
@yue
1997年論文
@zh-hant
1997年論文
@zh-hk
1997年論文
@zh-mo
1997年論文
@zh-tw
1997年论文
@wuu
name
Mutation screening of the EXT1 ...... hereditary multiple exostoses
@ast
Mutation screening of the EXT1 ...... hereditary multiple exostoses
@en
Mutation screening of the EXT1 ...... hereditary multiple exostoses
@en-gb
Mutation screening of the EXT1 ...... hereditary multiple exostoses
@nl
type
label
Mutation screening of the EXT1 ...... hereditary multiple exostoses
@ast
Mutation screening of the EXT1 ...... hereditary multiple exostoses
@en
Mutation screening of the EXT1 ...... hereditary multiple exostoses
@en-gb
Mutation screening of the EXT1 ...... hereditary multiple exostoses
@nl
prefLabel
Mutation screening of the EXT1 ...... hereditary multiple exostoses
@ast
Mutation screening of the EXT1 ...... hereditary multiple exostoses
@en
Mutation screening of the EXT1 ...... hereditary multiple exostoses
@en-gb
Mutation screening of the EXT1 ...... hereditary multiple exostoses
@nl
P2093
P2860
P921
P3181
P356
P1476
Mutation screening of the EXT1 ...... hereditary multiple exostoses
@en
P2093
A H Simpson
A P Monaco
C Philippe
D E Porter
M E Emerton
P2860
P3181
P356
10.1086/515505
P407
P577
1997-09-01T00:00:00Z