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Journal Abstract Search

136 related items for PubMed ID: 8596539

  • 1. Aberrant splicing and truncated-protein expression due to a newly identified XPA gene mutation.
    Sato M, Nishigori C, Yagi T, Takebe H.
    Mutat Res; 1996 Feb 15; 362(2):199-208. PubMed ID: 8596539
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  • 2. A novel XPA gene mutation and its functional analysis in a Japanese patient with xeroderma pigmentosum group A.
    Tanioka M, Budiyant A, Ueda T, Nagano T, Ichihashi M, Miyachi Y, Nishigori C.
    J Invest Dermatol; 2005 Aug 15; 125(2):244-6. PubMed ID: 16098033
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  • 3. Two novel splicing mutations in the XPA gene in patients with group A xeroderma pigmentosum.
    Satokata I, Uchiyama M, Tanaka K.
    Hum Mol Genet; 1995 Oct 15; 4(10):1993-4. PubMed ID: 8595429
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  • 4. Distribution of mutations in the human xeroderma pigmentosum group A gene and their relationships to the functional regions of the DNA damage recognition protein.
    States JC, McDuffie ER, Myrand SP, McDowell M, Cleaver JE.
    Hum Mutat; 1998 Oct 15; 12(2):103-13. PubMed ID: 9671271
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  • 6. High prevalence of the point mutation in exon 6 of the xeroderma pigmentosum group A-complementing (XPAC) gene in xeroderma pigmentosum group A patients in Tunisia.
    Nishigori C, Zghal M, Yagi T, Imamura S, Komoun MR, Takebe H.
    Am J Hum Genet; 1993 Nov 15; 53(5):1001-6. PubMed ID: 8105686
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  • 7. Effect of XPA gene mutations on UV-induced immunostaining of PCNA in fibroblasts from xeroderma pigmentosum group A patients.
    Miura M, Sasaki T.
    Mutat Res; 1996 Sep 02; 364(1):51-6. PubMed ID: 8814338
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  • 8. Compound heterozygosity for the Xeroderma pigmentosum complementation group A gene associated with a mild phenotype.
    Negishi I, Kato G, Moriwaki S, Ishikawa O.
    Eur J Dermatol; 2002 Sep 02; 12(6):536-9. PubMed ID: 12459522
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  • 9. Expression of a transfected DNA repair gene (XPA) in xeroderma pigmentosum group A cells restores normal DNA repair and mutagenesis of UV-treated plasmids.
    Levy DD, Saijo M, Tanaka K, Kraemer KH.
    Carcinogenesis; 1995 Jul 02; 16(7):1557-63. PubMed ID: 7614689
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  • 10. Stable transformation of xeroderma pigmentosum group A cells with an XPA minigene restores normal DNA repair and mutagenesis of UV-treated plasmids.
    Myrand SP, Topping RS, States JC.
    Carcinogenesis; 1996 Sep 02; 17(9):1909-17. PubMed ID: 8824513
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  • 11. Diagnosis of Xeroderma Pigmentosum Groups A and C by Detection of Two Prevalent Mutations in West Algerian Population: A Rapid Genotyping Tool for the Frequent XPC Mutation c.1643_1644delTG.
    Bensenouci S, Louhibi L, De Verneuil H, Mahmoudi K, Saidi-Mehtar N.
    Biomed Res Int; 2016 Sep 02; 2016():2180946. PubMed ID: 27413738
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  • 12. An XPA gene splicing mutation resulting in trace protein expression in an elderly patient with xeroderma pigmentosum group A without neurological abnormalities.
    Takahashi Y, Endo Y, Kusaka-Kikushima A, Nakamaura S, Nakazawa Y, Ogi T, Uryu M, Tsuji G, Furue M, Moriwaki S.
    Br J Dermatol; 2017 Jul 02; 177(1):253-257. PubMed ID: 27603812
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  • 13. Identification of splicing mutations of the last nucleotides of exons, a nonsense mutation, and a missense mutation of the XPAC gene as causes of group A xeroderma pigmentosum.
    Satokata I, Tanaka K, Yuba S, Okada Y.
    Mutat Res; 1992 Mar 02; 273(2):203-12. PubMed ID: 1372103
    [Abstract] [Full Text] [Related]

  • 14. Polymorphisms in the human xeroderma pigmentosum group A gene and their impact on cell survival and nucleotide excision repair.
    Mellon I, Hock T, Reid R, Porter PC, States JC.
    DNA Repair (Amst); 2002 Jul 17; 1(7):531-46. PubMed ID: 12509227
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  • 15. Gene alterations and clinical characteristics of xeroderma pigmentosum group A patients in Japan.
    Nishigori C, Moriwaki S, Takebe H, Tanaka T, Imamura S.
    Arch Dermatol; 1994 Feb 17; 130(2):191-7. PubMed ID: 7905727
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  • 18. Correlation of the clinical manifestations and gene mutations of Japanese xeroderma pigmentosum group A patients.
    Kondoh M, Ueda M, Ichihashi M.
    Br J Dermatol; 1995 Oct 17; 133(4):579-85. PubMed ID: 7577588
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  • 19. Genetic homogeneity of mutational spectrum of group-A xeroderma pigmentosum in Tunisian patients.
    Messaoud O, Ben Rekaya M, Cherif W, Talmoudi F, Boussen H, Mokhtar I, Boubaker S, Amouri A, Abdelhak S, Zghal M.
    Int J Dermatol; 2010 May 17; 49(5):544-8. PubMed ID: 20534089
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