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Journal Abstract Search

127 related items for PubMed ID: 1621494

  • 1. Allelic heterogeneity in group A xeroderma pigmentosum.
    Mimaki T, Tanaka K, Okada Y, Minami R, Tachi N, Nagai A, Mino M.
    Acta Neurol Scand; 1992 May; 85(5):327-30. PubMed ID: 1621494
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  • 2. 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; 130(2):191-7. PubMed ID: 7905727
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  • 3. [Neurological manifestations and molecular basis of group A xeroderma pigmentosum].
    Mimaki T, Tanaka K, Nagai A, Mino M.
    Nihon Rinsho; 1993 Sep; 51(9):2488-93. PubMed ID: 8105118
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  • 4. 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; 53(5):1001-6. PubMed ID: 8105686
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  • 5. Three nonsense mutations responsible for group A xeroderma pigmentosum.
    Satokata I, Tanaka K, Miura N, Narita M, Mimaki T, Satoh Y, Kondo S, Okada Y.
    Mutat Res; 1992 Mar; 273(2):193-202. PubMed ID: 1372102
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  • 6. 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 Mar; 12(6):536-9. PubMed ID: 12459522
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  • 7. Characterization of a splicing mutation in group A xeroderma pigmentosum.
    Satokata I, Tanaka K, Miura N, Miyamoto I, Satoh Y, Kondo S, Okada Y.
    Proc Natl Acad Sci U S A; 1990 Dec; 87(24):9908-12. PubMed ID: 1702221
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  • 8. 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 Dec; 2016():2180946. PubMed ID: 27413738
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  • 9. PCR-RFLP analysis as an aid to genetic counseling of families of Japanese patients with group A xeroderma pigmentosum.
    Maeda T, Sato K, Minami H, Taguchi H, Yoshikawa K.
    J Invest Dermatol; 1997 Sep; 109(3):306-9. PubMed ID: 9284095
    [Abstract] [Full Text] [Related]

  • 10. Molecular studies of Japanese patients with group A xeroderma pigmentosum using polymerase chain reaction and restriction fragment length polymorphism and nonradioactive single strand conformation polymorphism analyses.
    Sumitani S, Ishikawa Y, Ishikawa Y, Minami R.
    J Child Neurol; 1999 Mar; 14(3):168-72. PubMed ID: 10190268
    [Abstract] [Full Text] [Related]

  • 11. [Siblings with xeroderma pigmentosum group A showing mild cutaneous and various neurological manifestations].
    Kuru S, Yasuma M, Sakai M, Konagaya M, Moriwaki S.
    Rinsho Shinkeigaku; 2006 Feb; 46(2):134-9. PubMed ID: 16619838
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  • 15. Compound heterozygous group A xeroderma pigmentosum patient with a novel mutation and an inherited reciprocal translocation.
    Maeda T, Sato K, Tanaka T, Minami H, Taguchi H, Mimaki T, Yoshikawa K.
    Br J Dermatol; 2000 Jul; 143(1):174-9. PubMed ID: 10886156
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  • 17. 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; 125(2):244-6. PubMed ID: 16098033
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  • 19. 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; 273(2):203-12. PubMed ID: 1372103
    [Abstract] [Full Text] [Related]

  • 20. 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 Mar; 12(2):103-13. PubMed ID: 9671271
    [Abstract] [Full Text] [Related]

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