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Volumn 363, Issue 3, 1996, Pages 171-177

Splice site mutations in a xeroderma pigmentosum group A patient with delayed onset of neurological disease

Author keywords

Delayed onset neurological disease; Splice site muation; Xeroderma pigmentosum

Indexed keywords

ARTICLE; FIBROBLAST; HUMAN; HUMAN CELL; MUTATION; NEUROLOGIC DISEASE; PRIORITY JOURNAL; XERODERMA PIGMENTOSUM;

EID: 0030575545     PISSN: 09218777     EISSN: None     Source Type: Journal    
DOI: 10.1016/0921-8777(96)00004-3     Document Type: Article
Times cited : (13)

References (16)
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  • 2
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  • 5
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    • Grompe, M.1
  • 6
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    • Analysis of cells harboring a putative DNA repair gene reveals a lack of evidence for a second independent xeroderma pigmentosum group A correcting gene
    • Jones, C.J., R.S. Lloyd and R.D. Wood (1994) Analysis of cells harboring a putative DNA repair gene reveals a lack of evidence for a second independent xeroderma pigmentosum group A correcting gene. Mutation Res., 324, 159-164.
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    • Jones, C.J.1    Lloyd, R.S.2    Wood, R.D.3
  • 7
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    • The rate of removal of pyrimidine dimers in quiescent cultures of normal human and xeroderma pigmentosum cells
    • Kantor, G.J. and D.R. Hull (1984) The rate of removal of pyrimidine dimers in quiescent cultures of normal human and xeroderma pigmentosum cells, Mutation Res., 132, 21-31.
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    • Kantor, G.J.1    Hull, D.R.2
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    • A gene that partially complements xeroderma pigmentosum group A cells maps to human chromosome 8, Somat
    • Kaur, G.P., A. Rinaldy, R.S. Lloyd and R.S. Athwal (1992) A gene that partially complements xeroderma pigmentosum group A cells maps to human chromosome 8, Somat. Cell Mol. Genet., 18, 371-379.
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  • 10
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    • Increased UV resistance in xeroderma pigmentosum group A cells after transformation with a human genetic DNA clone
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  • 13
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    • 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., K. Tanaka, S. Yuba and Y. Okada (1992) 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, Mutation Res., 273, 203-212.
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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.