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Volumn 111, Issue 2, 1999, Pages 152-156

Seven novel mutations in the APC gene of Portuguese families with familial adenomatous polyposis: Correlation with phenotype

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; AUTOSOMAL DISORDER; CONTROLLED STUDY; EXON; FAMILIAL COLON POLYPOSIS; GENE MUTATION; HUMAN; MAJOR CLINICAL STUDY; PEDIGREE; PHENOTYPE; PORTUGAL; PRIORITY JOURNAL;

EID: 0032901706     PISSN: 01654608     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0165-4608(98)00238-6     Document Type: Article
Times cited : (2)

References (20)
  • 4
    • 0030944065 scopus 로고    scopus 로고
    • β-catenin as oncogene: The smoking gun
    • Pfeifer M. β-catenin as oncogene. the smoking gun Science. 275:1997;1752-1753.
    • (1997) Science , vol.275 , pp. 1752-1753
    • Pfeifer, M.1
  • 6
    • 0027146559 scopus 로고
    • Mutations of the APC gene
    • Nagase H., Nakamura Y. Mutations of the APC gene. Hum Mutat. 2:1993;425-434.
    • (1993) Hum Mutat , vol.2 , pp. 425-434
    • Nagase, H.1    Nakamura, Y.2
  • 7
    • 0028957642 scopus 로고
    • Mutations in the APC gene and their implications for protein structure and function
    • Polakis P. Mutations in the APC gene and their implications for protein structure and function. Curr Opin Genet Dev. 5:1995;66-71.
    • (1995) Curr Opin Genet Dev , vol.5 , pp. 66-71
    • Polakis, P.1
  • 8
    • 0028289053 scopus 로고
    • Rapid detection of translation-terminating mutations at the adenomatous polyposis coli (APC) gene by direct protein truncation test
    • Van der Luijt Khan P.M., Vasen H., Leeuwen C.V., Tops C., Roest P., Dunnen J.D., Fodde R. Rapid detection of translation-terminating mutations at the adenomatous polyposis coli (APC) gene by direct protein truncation test. Genomics. 20:1994;1-4.
    • (1994) Genomics , vol.20 , pp. 1-4
    • Van Der Luijt, K.P.M.1    Vasen, H.2    Leeuwen, C.V.3    Tops, C.4    Roest, P.5    Dunnen, J.D.6    Fodde, R.7
  • 9
    • 16944362068 scopus 로고    scopus 로고
    • Molecular analysis of the APC gene in 105 Dutch kindreds with familial adenomatous polyposis: 67 germline mutations identified by DGGE, PTT and Southern analysis
    • Van der Luijt R., Khan P.M., Vasen H., Tops C., Leeuwen C.V., Wijnen J.T., Klift H.M.V., Plug R.J., Griffioen G., Fodde R. Molecular analysis of the APC gene in 105 Dutch kindreds with familial adenomatous polyposis. 67 germline mutations identified by DGGE, PTT and Southern analysis Hum Mutat. 9:1997;7-16.
    • (1997) Hum Mutat , vol.9 , pp. 7-16
    • Van Der Luijt, R.1    Khan, P.M.2    Vasen, H.3    Tops, C.4    Leeuwen, C.V.5    Wijnen, J.T.6    Klift, H.M.V.7    Plug, R.J.8    Griffioen, G.9    Fodde, R.10
  • 11
    • 0024284028 scopus 로고
    • A simple salting out procedure for extracting DNA from human nucleated cells
    • Miller S.A., Dykes D.D., Polesky H.F. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res. 16:1988;739-743.
    • (1988) Nucleic Acids Res , vol.16 , pp. 739-743
    • Miller, S.A.1    Dykes, D.D.2    Polesky, H.F.3
  • 12
    • 0023277545 scopus 로고
    • Single-step method of RNA isolation by acid guanidinium thiocyanate-phenol-chloroform extraction
    • Chomczynski P., Sacchi N. Single-step method of RNA isolation by acid guanidinium thiocyanate-phenol-chloroform extraction. Anal Biochem. 162:1987;156-159.
    • (1987) Anal Biochem , vol.162 , pp. 156-159
    • Chomczynski, P.1    Sacchi, N.2
  • 14
    • 0031044278 scopus 로고    scopus 로고
    • Alternative splicing of the APC gene and its association with terminal differentiation
    • Santoro I.M., Groden J. Alternative splicing of the APC gene and its association with terminal differentiation. Cancer Res. 57:1997;488-494.
    • (1997) Cancer Res , vol.57 , pp. 488-494
    • Santoro, I.M.1    Groden, J.2
  • 15
    • 0029446166 scopus 로고    scopus 로고
    • Genotype-phenotype correlations at the adenomatous polyposis coli (APC) gene
    • Fodde R., Khan P.M. Genotype-phenotype correlations at the adenomatous polyposis coli (APC) gene. Crit Rev Oncog. 6:1997;291-303.
    • (1997) Crit Rev Oncog , vol.6 , pp. 291-303
    • Fodde, R.1    Khan, P.M.2
  • 16
    • 0030871048 scopus 로고    scopus 로고
    • Loss of β-catenin regulation by the APC tumor suppressor protein correlates with loss of structure due to common somatic mutations of the gene
    • Rubinfeld B., Albert I., Porfiri E., Munemitsu S., Polakis P. Loss of β-catenin regulation by the APC tumor suppressor protein correlates with loss of structure due to common somatic mutations of the gene. Cancer Res. 57:1997;4624-4630.
    • (1997) Cancer Res , vol.57 , pp. 4624-4630
    • Rubinfeld, B.1    Albert, I.2    Porfiri, E.3    Munemitsu, S.4    Polakis, P.5
  • 20
    • 0027417312 scopus 로고
    • Germline mutations in the first 14 exons of the adenomatous polyposis coli (APC) gene
    • Olschwang S., Laurent-Puig P., Groden J., White R., Thomas G. Germline mutations in the first 14 exons of the adenomatous polyposis coli (APC) gene. Am J Hum Genet. 52:1993;273-279.
    • (1993) Am J Hum Genet , vol.52 , pp. 273-279
    • Olschwang, S.1    Laurent-Puig, P.2    Groden, J.3    White, R.4    Thomas, G.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.