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Journal Abstract Search
111 related items for PubMed ID: 1372103
1. 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]
2. 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 [Abstract] [Full Text] [Related]
6. Structural and mutational analysis of the xeroderma pigmentosum group D (XPD) gene. Frederick GD, Amirkhan RH, Schultz RA, Friedberg EC. Hum Mol Genet; 1994 Oct; 3(10):1783-8. PubMed ID: 7849702 [Abstract] [Full Text] [Related]
7. 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 [Abstract] [Full Text] [Related]
8. Severe neurological abnormalities associated with a mutation in the zinc-finger domain in a group A xeroderma pigmentosum patient. Maeda T, Sato K, Minami H, Taguchi H, Yoshikawa K. Br J Dermatol; 1994 Oct 15; 131(4):566-70. PubMed ID: 7947212 [Abstract] [Full Text] [Related]
9. Analysis of a human DNA excision repair gene involved in group A xeroderma pigmentosum and containing a zinc-finger domain. Tanaka K, Miura N, Satokata I, Miyamoto I, Yoshida MC, Satoh Y, Kondo S, Yasui A, Okayama H, Okada Y. Nature; 1990 Nov 01; 348(6296):73-6. PubMed ID: 2234061 [Abstract] [Full Text] [Related]
10. Splice site mutations in a xeroderma pigmentosum group A patient with delayed onset of neurological disease. States JC, Myrand SP. Mutat Res; 1996 Aug 08; 363(3):171-7. PubMed ID: 8765158 [Abstract] [Full Text] [Related]
11. [Neurological manifestations and molecular basis of group A xeroderma pigmentosum]. Mimaki T, Tanaka K, Nagai A, Mino M. Nihon Rinsho; 1993 Sep 08; 51(9):2488-93. PubMed ID: 8105118 [Abstract] [Full Text] [Related]
12. 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 08; 87(24):9908-12. PubMed ID: 1702221 [Abstract] [Full Text] [Related]
13. Analysis of the tumor suppressor gene p53 in xeroderma pigmentosum fibroblasts. Lavu S, Srivastava M, Srivastava SK. Cancer Lett; 1994 Sep 30; 85(1):9-12. PubMed ID: 7923108 [Abstract] [Full Text] [Related]
14. Molecular analysis of ultraviolet-induced mutations in a xeroderma pigmentosum cell line. Dorado G, Steingrimsdottir H, Arlett CF, Lehmann AR. J Mol Biol; 1991 Jan 20; 217(2):217-22. PubMed ID: 1992158 [Abstract] [Full Text] [Related]
15. Identification and characterization of xpac protein, the gene product of the human XPAC (xeroderma pigmentosum group A complementing) gene. Miura N, Miyamoto I, Asahina H, Satokata I, Tanaka K, Okada Y. J Biol Chem; 1991 Oct 15; 266(29):19786-9. PubMed ID: 1918083 [Abstract] [Full Text] [Related]
16. Reduced XPC DNA repair gene mRNA levels in clinically normal parents of xeroderma pigmentosum patients. Khan SG, Oh KS, Shahlavi T, Ueda T, Busch DB, Inui H, Emmert S, Imoto K, Muniz-Medina V, Baker CC, DiGiovanna JJ, Schmidt D, Khadavi A, Metin A, Gozukara E, Slor H, Sarasin A, Kraemer KH. Carcinogenesis; 2006 Jan 15; 27(1):84-94. PubMed ID: 16081512 [Abstract] [Full Text] [Related]
17. Defects in the DNA repair and transcription gene ERCC2 in the cancer-prone disorder xeroderma pigmentosum group D. Takayama K, Salazar EP, Lehmann A, Stefanini M, Thompson LH, Weber CA. Cancer Res; 1995 Dec 01; 55(23):5656-63. PubMed ID: 7585650 [Abstract] [Full Text] [Related]
18. Mutational spectrum of Xeroderma pigmentosum group A in Egyptian patients. Amr K, Messaoud O, El Darouti M, Abdelhak S, El-Kamah G. Gene; 2014 Jan 01; 533(1):52-6. PubMed ID: 24135642 [Abstract] [Full Text] [Related]
19. Repair of damaged DNA by extracts from a xeroderma pigmentosum complementation group A revertant and expression of a protein absent in its parental cell line. Jones CJ, Cleaver JE, Wood RD. Nucleic Acids Res; 1992 Mar 11; 20(5):991-5. PubMed ID: 1549511 [Abstract] [Full Text] [Related]