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Volumn 11, Issue SUPPL 1, 1998, Pages

310 Basepair APC deletion with duplication of breakpoint (4394insl5del310) in an italian polyposis patient

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; BASE PAIRING; DNA REPLICATION; GENE DELETION; GENE DUPLICATION; HUMAN; HUMAN CELL; MOLECULAR CLONING; POINT MUTATION; POLYPOSIS; PRIORITY JOURNAL; ADULT; CASE REPORT; CHEMISTRY; COLON POLYPOSIS; FAMILY HEALTH; FEMALE; GENE EXPRESSION REGULATION; GENETICS; ITALY; MOLECULAR GENETICS; NUCLEOTIDE SEQUENCE;

EID: 0031974996     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.1380110171     Document Type: Article
Times cited : (12)

References (12)
  • 1
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    • A suggested nomenclature for designating mutations
    • Beaudet AL, Tsui LC (1993) A suggested nomenclature for designating mutations. Hum Mutat 2:245-248.
    • (1993) Hum Mutat , vol.2 , pp. 245-248
    • Beaudet, A.L.1    Tsui, L.C.2
  • 6
    • 0027404612 scopus 로고
    • Formation of large deletions by illegitimate recombination in the HPRT gene of primary human fibro-blasts
    • USA
    • Morris T, Thacker J (1993) Formation of large deletions by illegitimate recombination in the HPRT gene of primary human fibro-blasts. Proc Natl Acad Sci USA 90:1392-1396.
    • (1993) Proc Natl Acad Sci , vol.90 , pp. 1392-1396
    • Morris, T.1    Thacker, J.2
  • 8
    • 0028957642 scopus 로고
    • Mutations in the APC gene and their implications for protein structure and function
    • Polakis P (1995) Mutations in the APC gene and their implications for protein structure and function. Curr Opin Genet Devel 5:66-71.
    • (1995) Curr Opin Genet Devel , vol.5 , pp. 66-71
    • Polakis, P.1
  • 9
    • 0022256461 scopus 로고
    • Mechanisms of nonhomo-logous recombination in mammalian cells
    • Roth D, Porte TN, Wilson JH (1985) Mechanisms of nonhomo-logous recombination in mammalian cells. Mol Cell Biol 5:2599-2607.
    • (1985) Mol Cell Biol , vol.5 , pp. 2599-2607
    • Roth, D.1    Porte, T.N.2    Wilson, J.H.3
  • 10
    • 0003903343 scopus 로고
    • Molecular Cloning: A Laboratory Manual, 2nd ed
    • Cold Spring Harbor, NY: Cold Spring Harbor Laboratory, Press
    • Sambrook J, Fritsch EF, Maniatis T (1989) Molecular Cloning: A Laboratory Manual, 2nd ed. Cold Spring Harbor, NY: Cold Spring Harbor Laboratory, Press.
    • (1989)
    • Sambrook, J.1    Fritsch, E.F.2    Maniatis, T.3
  • 12
    • 0027422048 scopus 로고
    • A rapid screening method to detect nonsense and frameshift mutations: Identification of disease-causing APC alleles
    • Varesco L, Groden J, Spirio L, Robertson M, Weiss R, Gismondi V, Ferrara GB, White R (1993) A rapid screening method to detect nonsense and frameshift mutations: Identification of disease-causing APC alleles. Cancer Res 53:5581-5584.
    • (1993) Cancer Res , vol.53 , pp. 5581-5584
    • Varesco, L.1    Groden, J.2    Spirio, L.3    Robertson, M.4    Weiss, R.5    Gismondi, V.6    Ferrara, G.B.7    White, R.8


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.