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Volumn 34, Issue 7, 1997, Pages 579-581

Four frameshift mutations in neurofibromatosis type 1 caused by small insertions

Author keywords

ALL; Insertions; Mutation; Neurofibromatosis 1

Indexed keywords

DNA; HETERODUPLEX;

EID: 0030745835     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.34.7.579     Document Type: Article
Times cited : (4)

References (12)
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    • Li, Y.1    O'Connell, P.2    Huntsman-Breidenbach, H.H.3
  • 3
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    • Two NF1 mutations: Frameshift in the GAP-related domain, and loss of two codons toward the 3′ end of the gene
    • Abernathy CR, Colman SD, Kousseff BG, Wallace MR. Two NF1 mutations: frameshift in the GAP-related domain, and loss of two codons toward the 3′ end of the gene. Hum Mutat 1994;3:347-52.
    • (1994) Hum Mutat , vol.3 , pp. 347-352
    • Abernathy, C.R.1    Colman, S.D.2    Kousseff, B.G.3    Wallace, M.R.4
  • 4
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    • NF1 mutation analysis using a combined heteroduplex/SSCP approach
    • in press
    • Abernathy CR, Rasmussen SA, Stalker HJ, et al. NF1 mutation analysis using a combined heteroduplex/SSCP approach. Hum Mutat (in press).
    • Hum Mutat
    • Abernathy, C.R.1    Rasmussen, S.A.2    Stalker, H.J.3
  • 5
    • 0027486340 scopus 로고
    • Characterization of a single-base pair deletion in neurofibromatosis type 1
    • Colman SD, Collins FS, Wallace MR. Characterization of a single-base pair deletion in neurofibromatosis type 1. Hum Mol Genet 1993;2:1709-11.
    • (1993) Hum Mol Genet , vol.2 , pp. 1709-1711
    • Colman, S.D.1    Collins, F.S.2    Wallace, M.R.3
  • 6
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    • Characterization of six mutations in exon 37 of neurofibromatosis type 1 gene
    • Upadhyaya M, Osborn M, Maynard J, Harper P. Characterization of six mutations in exon 37 of neurofibromatosis type 1 gene. Am J Med Genet 1996;67:421-3.
    • (1996) Am J Med Genet , vol.67 , pp. 421-423
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    • Neurofibromatosis and childhood leukaemia/lymphoma: A population-based UKCCSG study
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    • (1994) Br J Cancer , vol.70 , pp. 969-972
    • Stiller, C.A.1    Chessells, J.M.2    Fitchett, M.3
  • 9
    • 0028260649 scopus 로고
    • Characterization of an intron 31 splice junction mutation in the neurofibromatosis (NF1) gene
    • Ainsworth P, Rodenhiser D, Stuart A, Jung J. Characterization of an intron 31 splice junction mutation in the neurofibromatosis (NF1) gene. Hum Mol Genet 1994;3:1179-81.
    • (1994) Hum Mol Genet , vol.3 , pp. 1179-1181
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  • 12
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    • Analysis of segregation and expression of an identified mutation at the neurofibromatosis type 1 locus
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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.