[1]
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NUCLEOTIDE SEQUENCE [MRNA].
TISSUE=Placenta;
DOI=10.1038/ng1095-137; PubMed=7550340 [NCBI, ExPASy, EBI, Israel, Japan]
Ahn J.,
Luedecke H.-J.,
Lindow S.,
Horton W.A.,
Lee B.,
Wagner M.J.,
Horsthemke B.,
Wells D.E.;
"Cloning of the putative tumour suppressor gene for hereditary multiple exostoses (EXT1).";
Nat. Genet. 11:137-143(1995).
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[2]
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NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
TISSUE=Brain;
DOI=10.1101/gr.2596504; PubMed=15489334 [NCBI, ExPASy, EBI, Israel, Japan]
The MGC Project Team;
"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).";
Genome Res. 14:2121-2127(2004).
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[3]
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NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-320.
TISSUE=Lung;
DOI=10.1006/geno.1996.4577; PubMed=9119404 [NCBI, ExPASy, EBI, Israel, Japan]
Luedecke H.-J.,
Ahn J.,
Lin X.,
Hill A.,
Wagner M.J.,
Schomburg L.,
Horsthemke B.,
Wells D.E.;
"Genomic organization and promoter structure of the human EXT1 gene.";
Genomics 40:351-354(1997).
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[4]
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SUBUNIT, AND SUBCELLULAR LOCATION.
DOI=10.1006/bbrc.2000.2219; PubMed=10679296 [NCBI, ExPASy, EBI, Israel, Japan]
Kobayashi S.,
Morimoto K.,
Shimizu T.,
Takahashi M.,
Kurosawa H.,
Shirasawa T.;
"Association of EXT1 and EXT2, hereditary multiple exostoses gene products, in Golgi apparatus.";
Biochem. Biophys. Res. Commun. 268:860-867(2000).
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[5]
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FUNCTION.
PubMed=11518722 [NCBI, ExPASy, EBI, Israel, Japan]
Duncan G.,
McCormick C.,
Tufaro F.;
"The link between heparan sulfate and hereditary bone disease: finding a function for the EXT family of putative tumor suppressor proteins.";
J. Clin. Invest. 108:511-516(2001).
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[6]
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REVIEW ON VARIANTS.
DOI=10.1002/(SICI)1098-1004(200003)15:3<220::AID-HUMU2>3.0.CO;2-K; PubMed=10679937 [NCBI, ExPASy, EBI, Israel, Japan]
Wuyts W.,
Van Hul W.;
"Molecular basis of multiple exostoses: mutations in the EXT1 and EXT2 genes.";
Hum. Mutat. 15:220-227(2000).
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[7]
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VARIANTS EXT1 GLY-280 AND HIS-340.
Raskind W.H.,
Matsushita M.,
Conrad E.U. III,
Wells D.E.,
Sandell L.J.,
Wagner M.J.,
Houck J.;
"Spectrum of EXT1 mutations in hereditary multiple exostoses.";
Am. J. Hum. Genet. 59:A280-A280(1996).
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[8]
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VARIANT EXT1 LEU-340.
PubMed=8981950 [NCBI, ExPASy, EBI, Israel, Japan]
Hecht J.T.,
Hogue D.A.,
Wang Y.,
Blanton S.H.,
Wagner M.J.,
Strong L.C.,
Raskind W.H.,
Hansen M.F.,
Wells D.E.;
"Hereditary multiple exostoses (EXT): mutational studies of familial EXT1 cases and EXT-associated malignancies.";
Am. J. Hum. Genet. 60:80-86(1997).
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[9]
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VARIANTS EXT1 ASP-339 AND CYS-340.
PubMed=9326317 [NCBI, ExPASy, EBI, Israel, Japan]
Philippe C.,
Porter D.E.,
Emerton M.E.,
Wells D.E.,
Simpson A.H.R.W.,
Monaco A.P.;
"Mutation screening of the EXT1 and EXT2 genes in patients with hereditary multiple exostoses.";
Am. J. Hum. Genet. 61:520-528(1997).
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[10]
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VARIANTS EXT1 GLY-280 AND SER-340.
DOI=10.1086/301726; PubMed=9463333 [NCBI, ExPASy, EBI, Israel, Japan]
Wuyts W.,
van Hul W.,
de Boulle K.,
Hendrickx J.,
Bakker E.,
Vanhoenacker F.,
Mollica F.,
Luedecke H.-J.,
Sayli B.S.,
Pazzaglia U.E.,
Mortier G.,
Hamel B.C.J.,
Conrad E.U. III,
Matsushita M.,
Raskind W.H.,
Willems P.J.;
"Mutations in the EXT1 and EXT2 genes in hereditary multiple exostoses.";
Am. J. Hum. Genet. 62:346-354(1998).
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[11]
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VARIANTS EXT1 GLY-280; SER-280; HIS-340 AND HIS-627 DEL.
DOI=10.1002/(SICI)1098-1004(1998)11:3<231::AID-HUMU8>3.3.CO;2-H; PubMed=9521425 [NCBI, ExPASy, EBI, Israel, Japan]
Raskind W.H.,
Conrad E.U. III,
Matsushita M.,
Wijsman E.M.,
Wells D.E.,
Chapman N.,
Sandell L.J.,
Wagner M.J.,
Houck J.;
"Evaluation of locus heterogeneity and EXT1 mutations in 34 families with hereditary multiple exostoses.";
Hum. Mutat. 11:231-239(1998).
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[12]
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VARIANTS EXT1 HIS-164; 235-PRO--LYS-239 DEL AND SER-316.
DOI=10.1086/302532; PubMed=10441575 [NCBI, ExPASy, EBI, Israel, Japan]
Bovee J.V.M.G.,
Cleton-Jansen A.-M.,
Wuyts W.,
Caethoven G.,
Taminiau A.H.M.,
Bakker E.,
van Hul W.,
Cornelisse C.J.,
Hogendoorn P.C.W.;
"EXT-mutation analysis and loss of heterozygosity in sporadic and hereditary osteochondromas and secondary chondrosarcomas.";
Am. J. Hum. Genet. 65:689-698(1999).
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[13]
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VARIANTS EXT1 VAL-486 AND LEU-496.
DOI=10.1007/s004390051062; PubMed=10480354 [NCBI, ExPASy, EBI, Israel, Japan]
Xu L.,
Xia J.,
Jiang H.,
Zhou J.,
Li H.,
Wang D.,
Pan Q.,
Long Z.,
Fan C.,
Deng H.-X.;
"Mutation analysis of hereditary multiple exostoses in the Chinese.";
Hum. Genet. 105:45-50(1999).
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[14]
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VARIANT EXT1 215-MET--SER-221 DEL, AND VARIANT OSTEOCHONDROMA 215-MET--SER-222 DELINS ILE.
DOI=10.1002/1097-0169(200102)48:2<149::AID-CM1005>3.0.CO;2-3; PubMed=11169766 [NCBI, ExPASy, EBI, Israel, Japan]
Bernard M.A.,
Hall C.E.,
Hogue D.A.,
Cole W.G.,
Scott A.,
Snuggs M.B.,
Clines G.A.,
Luedecke H.-J.,
Lovett M.,
Van Winkle W.B.,
Hecht J.T.;
"Diminished levels of the putative tumor suppressor proteins EXT1 and EXT2 in exostosis chondrocytes.";
Cell Motil. Cytoskeleton 48:149-162(2001).
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[15]
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CHARACTERIZATION OF VARIANTS, AND MUTAGENESIS OF GLN-27; ASP-164; ASN-316; ALA-486 AND PRO-496.
DOI=10.1086/321278; PubMed=11391482 [NCBI, ExPASy, EBI, Israel, Japan]
Cheung P.K.,
McCormick C.,
Crawford B.E.,
Esko J.D.,
Tufaro F.,
Duncan G.;
"Etiological point mutations in the hereditary multiple exostoses gene EXT1: a functional analysis of heparan sulfate polymerase activity.";
Am. J. Hum. Genet. 69:55-66(2001).
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