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Volumn 12, Issue 2, 1998, Pages 63-70

Acute intermittent porphyria: Alternative splicing of hydroxymethylbilane synthase mRNA excludes exons 3 and 12

Author keywords

Acute intermittent porphyria; Alternative splicing; Consensus value; Hydroxymethylbilane synthase

Indexed keywords

MESSENGER RNA; PORPHOBILINOGEN DEAMINASE;

EID: 0032052751     PISSN: 08908508     EISSN: None     Source Type: Journal    
DOI: 10.1006/mcpr.1997.0153     Document Type: Article
Times cited : (3)

References (15)
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    • 1. Kappas, A., Sassa, S., Galbraith, R. A. & Nordmann, Y. (1989). The porphyrias. In The Metabolic Basis of Inherited Disease (Stanbury, J. B., Wyngaarden, J. B., Fredrickson, D. S., Goldstein, J. L. & Brown, M. S., eds) 6th edn, pp. 1305-65. New York: McGraw-Hill.
    • (1989) The Metabolic Basis of Inherited Disease , pp. 1305-1365
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  • 2
    • 0002548708 scopus 로고
    • Porphyrin metabolism and the porphyrias
    • (Bondy, P. K. & Rosenberg, L., eds) Philadelphia: W. B. Saunders
    • 2. Tschudy, D. P. & Lamon, J. M. (1980). Porphyrin metabolism and the porphyrias. In Metabolic Control and Disease (Bondy, P. K. & Rosenberg, L., eds) pp. 937-1007. Philadelphia: W. B. Saunders.
    • (1980) Metabolic Control and Disease , pp. 937-1007
    • Tschudy, D.P.1    Lamon, J.M.2
  • 4
    • 0023713201 scopus 로고
    • Alternative transcription and splicing of the human porphobilinogen deaminase gene result either in tissue-specific or in housekeeping expression
    • 4. Chretein, S., Dubart, A., Beaupain, D. et al. (1988). Alternative transcription and splicing of the human porphobilinogen deaminase gene result either in tissue-specific or in housekeeping expression. Proceedings of the National Academy of Sciences, USA 85, 6-10.
    • (1988) Proceedings of the National Academy of Sciences, USA , vol.85 , pp. 6-10
    • Chretein, S.1    Dubart, A.2    Beaupain, D.3
  • 6
    • 0026808849 scopus 로고
    • Detection of seven point mutations in the porphobilinogen deaminase gene in patients with acute intermittent porphyria by direct sequencing of in vitro amplified cDNA
    • 6. Mgone, C. S., Lanyon, W. G., Moore, M. R. & Connor, J. M. (1992). Detection of seven point mutations in the porphobilinogen deaminase gene in patients with acute intermittent porphyria by direct sequencing of in vitro amplified cDNA. Human Genetics 90, 12-6.
    • (1992) Human Genetics , vol.90 , pp. 12-16
    • Mgone, C.S.1    Lanyon, W.G.2    Moore, M.R.3    Connor, J.M.4
  • 9
    • 0023651307 scopus 로고
    • RNA splice junctions of different classes of eukaryotes: Sequence statistics and functional implications in gene expression
    • 9. Shapiro, M. B. & Senapathy, P. (1987). RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression. Nucleic Acids Research 15, 7155-74.
    • (1987) Nucleic Acids Research , vol.15 , pp. 7155-7174
    • Shapiro, M.B.1    Senapathy, P.2
  • 11
    • 0029869938 scopus 로고    scopus 로고
    • Acute intermittent porphyria caused by defective splicing of porphobilinogen deaminase RNA: A synonymous codon mutation at - 22 bp from the 5′ splice site causes skipping of exon 3
    • 11. Llewellyn, D. H., Scobie, G. A., Urquhart, A. J. et al. (1996). Acute intermittent porphyria caused by defective splicing of porphobilinogen deaminase RNA: a synonymous codon mutation at - 22 bp from the 5′ splice site causes skipping of exon 3. Journal of Medical Genetics 33, 437-8.
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  • 12
    • 0028226452 scopus 로고
    • Identification of a novel exonic mutation at - 13 from 5′ splice site causing exon skipping in a girl with mitochondrial acetoacetyl-coenzyme A thiolase deficiency
    • 12. Fukao, T., Yamaguchi, S., Wakazono, A., Orii, T. Hoganson, G. & Hashimoto, T. (1994). Identification of a novel exonic mutation at - 13 from 5′ splice site causing exon skipping in a girl with mitochondrial acetoacetyl-coenzyme A thiolase deficiency. Journal of Clinical Investigation 93, 1035-41.
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  • 13
    • 0026607344 scopus 로고
    • Mutations which alter splicing in the human hypoxanthime-guanine phosphoribosyltransferase gene
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  • 14
  • 15
    • 0026794668 scopus 로고
    • The mutational spectrum of single-base substitutions in mRNA splice junctions of human genes: Causes and consequences
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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.