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Volumn 6, Issue 3, 2002, Pages 237-243

Mutation screening of the EXT genes in patients with hereditary multiple exostoses in Taiwan

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BONE TUMOR; CHROMOSOME 11P; CHROMOSOME 19P; CHROMOSOME 8Q; EXT GENE; FRAMESHIFT MUTATION; GENE; GENE LOCUS; GENETIC LINKAGE; GENETIC SCREENING; HEREDITARY MULTIPLE EXOSTOSIS; HETEROZYGOSITY; HUMAN; MISSENSE MUTATION; MOLECULAR CLONING; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; POPULATION RESEARCH; PRENATAL DIAGNOSIS; TAIWAN; TUMOR SUPPRESSOR GENE; CHROMOSOME MAP; DNA SEQUENCE; FEMALE; GENETICS; HYBRIDIZATION; MALE; MUTATION; PEDIGREE; SINGLE STRAND CONFORMATION POLYMORPHISM;

EID: 0036757178     PISSN: 10906576     EISSN: None     Source Type: Journal    
DOI: 10.1089/109065702761403441     Document Type: Article
Times cited : (14)

References (20)
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  • 7
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    • Hereditary multiple exostosis and chondrosarcoma: Linkage to chromosome II and loss of heterozygosity for EXT-linked markers on chromosomes II and 8
    • Hecht, J.T., Hogue, D., Strong, L.C., Hansen, M.F., Blanton, S.H., and Wagner, M. (1995). Hereditary multiple exostosis and chondrosarcoma: Linkage to chromosome II and loss of heterozygosity for EXT-linked markers on chromosomes II and 8. Am. J. Hum. Genet. 56, 1125-1131.
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  • 10
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    • The putative tumor suppressors EXT1 and EXT2 form a stable complex that accumulates in the Golgi apparatus and catalyzes the synthesis of heparan sulfate
    • McCormick, C., Duncan, G., Goutsos, K.T., and Tufaro, F. (2000). The putative tumor suppressors EXT1 and EXT2 form a stable complex that accumulates in the Golgi apparatus and catalyzes the synthesis of heparan sulfate. Proc. Natl. Acad. Sci. USA 97, 668-673.
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  • 11
  • 12
    • 0034164616 scopus 로고    scopus 로고
    • An R223P mutation in EXT2 gene causes hereditary multiple exostoses
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  • 13
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    • Shi, Y.R., Wu, J.Y., Tsai, F.J., Lee, C.C., and Tsai, C.H. (2001). A 651-665delinsTT mutation in EXT1 causes hereditary multiple exostoses. Hum. Mutat. 17, 158.
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    • Hereditary multiple exostoses
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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.