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Volumn 124, Issue 1, 2005, Pages 87-91

DNA-based diagnosis of xeroderma pigmentosum group C by whole-genome scan using single-nucleotide polymorphism microarray

Author keywords

Homozygosity mapping; Single nucleotide polymorphism microarray; Whole genome scan; Xeroderma pigmentosum

Indexed keywords

DNA BASE; GENOMIC DNA;

EID: 11944270642     PISSN: 0022202X     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.0022-202X.2004.23563.x     Document Type: Article
Times cited : (15)

References (12)
  • 1
    • 0034027382 scopus 로고    scopus 로고
    • Mutations in the XPC gene in families with xeroderma pigmentosum and consequences at the cell, protein and transcript levels
    • Chavanne F, Broughton BC, Pietra D, et al: Mutations in the XPC gene in families with xeroderma pigmentosum and consequences at the cell, protein and transcript levels. Cancer Res 60:1974-1982, 2000
    • (2000) Cancer Res , vol.60 , pp. 1974-1982
    • Chavanne, F.1    Broughton, B.C.2    Pietra, D.3
  • 2
    • 0033983935 scopus 로고    scopus 로고
    • Common pathways for ultraviolet skin carcinogenesis in the repair and replication defective groups of xeroderma pigmentosum
    • Cleaver JE: Common pathways for ultraviolet skin carcinogenesis in the repair and replication defective groups of xeroderma pigmentosum. J Dermatol Sci 23:1-11, 2000
    • (2000) J Dermatol Sci , vol.23 , pp. 1-11
    • Cleaver, J.E.1
  • 3
    • 0032993689 scopus 로고    scopus 로고
    • A summary of mutations in the UV-sensitive disorders: Xeroderma pigmentosum, cockayne syndrome, and trichothiodystrophy
    • Cleaver JE, Thompson LH, Richardson AS, States JC: A summary of mutations in the UV-sensitive disorders: Xeroderma pigmentosum, cockayne syndrome, and trichothiodystrophy. Hum Mutat 14:9-22, 1999
    • (1999) Hum Mutat , vol.14 , pp. 9-22
    • Cleaver, J.E.1    Thompson, L.H.2    Richardson, A.S.3    States, J.C.4
  • 4
    • 0033936872 scopus 로고    scopus 로고
    • Parallel genotyping of human SNPs using generic high-density oligonucleotide tag arrays
    • Fan JB, Chen X, Halushka MK, et al: Parallel genotyping of human SNPs using generic high-density oligonucleotide tag arrays. Genome Res 10:853-860, 2000
    • (2000) Genome Res , vol.10 , pp. 853-860
    • Fan, J.B.1    Chen, X.2    Halushka, M.K.3
  • 5
    • 0035722196 scopus 로고    scopus 로고
    • A stop codon in xeroderma pigmentosum group C families in Turkey and Italy: Molecular genetic evidence for a common ancestor
    • Gozukara EM, Khan SG, Metin A, et al: A stop codon in xeroderma pigmentosum group C families in Turkey and Italy: Molecular genetic evidence for a common ancestor. J Invest Dermatol 117:197-204, 2001
    • (2001) J Invest Dermatol , vol.117 , pp. 197-204
    • Gozukara, E.M.1    Khan, S.G.2    Metin, A.3
  • 6
    • 0031738328 scopus 로고    scopus 로고
    • Xeroderma pigmentosum group C splice mutation associated with autism and hypoglycinemia
    • Khan SG, Levy HL, Legerski R, et al: Xeroderma pigmentosum group C splice mutation associated with autism and hypoglycinemia. J Invest Dermatol 111:791-796, 1998
    • (1998) J Invest Dermatol , vol.111 , pp. 791-796
    • Khan, S.G.1    Levy, H.L.2    Legerski, R.3
  • 7
    • 10744223717 scopus 로고    scopus 로고
    • Two essential splice lariat branchpoint sequences in one intron in a xeroderma pigmentosum DNA repair gene: Mutations result in reduced XPC mRNA levels that correlate with cancer risk
    • Khan SG, Metin A, Gozukara E, et al: Two essential splice lariat branchpoint sequences in one intron in a xeroderma pigmentosum DNA repair gene: Mutations result in reduced XPC mRNA levels that correlate with cancer risk. Hum Mol Gene 13:343-352, 2004
    • (2004) Hum Mol Gene , vol.13 , pp. 343-352
    • Khan, S.G.1    Metin, A.2    Gozukara, E.3
  • 8
    • 0023130695 scopus 로고
    • Xeroderma pigmentosum. Cutaneous, ocular, and neurologic abnormalities in 830 published cases
    • Kraemer KH, Lee MM, Scotto J: Xeroderma pigmentosum. Cutaneous, ocular, and neurologic abnormalities in 830 published cases. Arch Dermatol 123:241-250, 1987
    • (1987) Arch Dermatol , vol.123 , pp. 241-250
    • Kraemer, K.H.1    Lee, M.M.2    Scotto, J.3
  • 9
    • 0026697582 scopus 로고
    • Expression cloning of a human DNA repair gene involved in xeroderma pigmentosum group C
    • Legerski R, Peterson C: Expression cloning of a human DNA repair gene involved in xeroderma pigmentosum group C. Nature 359:70-73, 1992
    • (1992) Nature , vol.359 , pp. 70-73
    • Legerski, R.1    Peterson, C.2
  • 10
    • 0027370825 scopus 로고
    • Characterization of molecular defects in xeroderma pigmentosum group C
    • Li L, Bales ES, Peterson CA, Legerski RJ: Characterization of molecular defects in xeroderma pigmentosum group C. Nat Genet 5:423-427, 1993
    • (1993) Nat Genet , vol.5 , pp. 423-427
    • Li, L.1    Bales, E.S.2    Peterson, C.A.3    Legerski, R.J.4
  • 11
    • 0035057195 scopus 로고    scopus 로고
    • Xeroderma pigmentosum - Bridging a gap between clinic and laboratory
    • Moriwaki S, Kraemer KH: Xeroderma pigmentosum - bridging a gap between clinic and laboratory. Photodermatol Photoimmunol Photomed 17:47-54, 2001
    • (2001) Photodermatol Photoimmunol Photomed , vol.17 , pp. 47-54
    • Moriwaki, S.1    Kraemer, K.H.2
  • 12
    • 0034518194 scopus 로고    scopus 로고
    • Clinical, cellular, and molecular features of an Israeli xeroderma pigmentosum family with a frameshift mutation in the XPC gene: Sun protection prolongs life
    • Slor H, Batko S, Khan SG, et al: Clinical, cellular, and molecular features of an Israeli xeroderma pigmentosum family with a frameshift mutation in the XPC gene: Sun protection prolongs life. J Invest Dermatol 115:974-980, 2000
    • (2000) J Invest Dermatol , vol.115 , pp. 974-980
    • Slor, H.1    Batko, S.2    Khan, S.G.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.