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Volumn 100, Issue 5-6, 1997, Pages 601-605

Novel germline mutations in the APC gene and their phenotypic spectrum in familial adenomatous polyposis kindreds

Author keywords

[No Author keywords available]

Indexed keywords

ADENOMATOUS POLYP; ALLELE; ARTICLE; CLINICAL ARTICLE; CODON; FRAMESHIFT MUTATION; GENE INSERTION; GENE MUTATION; GENE SEGREGATION; GENETIC SCREENING; GENOTYPE; GERM LINE; HUMAN; HUMAN CELL; MISSENSE MUTATION; OSTEOMA; PHENOTYPE; PRIORITY JOURNAL;

EID: 0031429057     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004390050560     Document Type: Article
Times cited : (40)

References (27)
  • 1
    • 0029848852 scopus 로고    scopus 로고
    • Update on nomenclature for human gene mutations
    • Ad hoc committe on mutation nomenclature
    • Ad hoc committe on mutation nomenclature (1996) Update on nomenclature for human gene mutations. Hum Mutat 8:197-202
    • (1996) Hum Mutat , vol.8 , pp. 197-202
  • 2
    • 0029928160 scopus 로고    scopus 로고
    • APC gene: Database of germline and somatic mutations in human tumors and cell lines
    • Béroud C, Soussi T (1996) APC gene: database of germline and somatic mutations in human tumors and cell lines. Nucleic Acids Res 24:121-124
    • (1996) Nucleic Acids Res , vol.24 , pp. 121-124
    • Béroud, C.1    Soussi, T.2
  • 4
    • 84870426647 scopus 로고    scopus 로고
    • accessible at the Institute of Medical Genetics, University of Wales College of Medicine in Cardiff, UK
    • DA, Krawczak M (1997) Human gene mutation database (accessible at the Institute of Medical Genetics, University of Wales College of Medicine in Cardiff, UK: http://www.cf.ac.uk/uwcm/mg/hgmdO,html)
    • (1997) Human Gene Mutation Database
    • DAF Krawczak, M.1
  • 6
    • 0029316609 scopus 로고
    • Hereditary gastrointestinal polyposis and non polyposis syndromes
    • Dupuis MJM, Verellen-Dumoulin C (1995) Hereditary gastrointestinal polyposis and non polyposis syndromes. N Eng J Med 332:1518
    • (1995) N Eng J Med , vol.332 , pp. 1518
    • Dupuis, M.J.M.1    Verellen-Dumoulin, C.2
  • 7
    • 0029446166 scopus 로고    scopus 로고
    • Genotype-phenotype correlations at the adenomatous polyposis coli (APC) gene
    • Fodde R, Meera Khan P (1997) Genotype-phenotype correlations at the adenomatous polyposis coli (APC) gene. Crit Rev Oncog 6:291-303
    • (1997) Crit Rev Oncog , vol.6 , pp. 291-303
    • Fodde, R.1    Meera Khan, P.2
  • 8
    • 0029897836 scopus 로고    scopus 로고
    • Attenuated familial adenomatous polyposis due to a mutation in the 3′ part of the APC gene. A clue for understanding the function of the APC protein
    • Friedl W, Meuschel S, Caspari R, Lamberti C, Krieger S, Sengteller M, Propping P (1996) Attenuated familial adenomatous polyposis due to a mutation in the 3′ part of the APC gene. A clue for understanding the function of the APC protein. Hum Genet 97:579-584
    • (1996) Hum Genet , vol.97 , pp. 579-584
    • Friedl, W.1    Meuschel, S.2    Caspari, R.3    Lamberti, C.4    Krieger, S.5    Sengteller, M.6    Propping, P.7
  • 13
    • 0028289053 scopus 로고
    • Rapid detection of translation-terminating mutations at the adenomatous polyposis coli (APC) gene by direct protein truncation test
    • Luijt R van der, Meera Khan P, Vasen H, Leeuwen C van, Tops C, Roest P, Dunnen J den, Fodde R (1994) Rapid detection of translation-terminating mutations at the adenomatous polyposis coli (APC) gene by direct protein truncation test. Genomics 20: 1-4
    • (1994) Genomics , vol.20 , pp. 1-4
    • Van der Luijt, R.1    Meera Khan, P.2    Vasen, H.3    Van Leeuwen, C.4    Tops, C.5    Roest, P.6    Den Dunnen, J.7    Fodde, R.8
  • 15
    • 0028998255 scopus 로고
    • The secretory phospholipase A2 gene is a candidate for the Mom1 locus, a major modifier of APCMin-induced intestinal neoplasia
    • MacPhee M, Chepenik KP, Liddell RA, Nelson KK, Siracusa LD, Buchberg AM (1995) The secretory phospholipase A2 gene is a candidate for the Mom1 locus, a major modifier of APCMin-induced intestinal neoplasia. Cell 81:957-966
    • (1995) Cell , vol.81 , pp. 957-966
    • MacPhee, M.1    Chepenik, K.P.2    Liddell, R.A.3    Nelson, K.K.4    Siracusa, L.D.5    Buchberg, A.M.6
  • 17
    • 0026651826 scopus 로고
    • Correlation between the location of germ-line mutations in the APC gene and the number of colorectal polyps in familial adenomatous polyposis patients
    • Nagase H, Miyoshi Y, Horii A, Aoki T, Ogawa M, Utsunomiya J, Baba S, Sasazuki T, Nakamura Y (1992) Correlation between the location of germ-line mutations in the APC gene and the number of colorectal polyps in familial adenomatous polyposis patients. Cancer Res 52:4055-4057
    • (1992) Cancer Res , vol.52 , pp. 4055-4057
    • Nagase, H.1    Miyoshi, Y.2    Horii, A.3    Aoki, T.4    Ogawa, M.5    Utsunomiya, J.6    Baba, S.7    Sasazuki, T.8    Nakamura, Y.9
  • 18
    • 0027769633 scopus 로고
    • Restriction of ocular fundus lesions to a specific subgroup of APC mutations in adenomatous polyposis coli patients
    • Olschwang S, Tiret A, Laurent-Puig P, Muleris M, Parc R, Thomas G (1993) Restriction of ocular fundus lesions to a specific subgroup of APC mutations in adenomatous polyposis coli patients. Cell 75:959-968
    • (1993) Cell , vol.75 , pp. 959-968
    • Olschwang, S.1    Tiret, A.2    Laurent-Puig, P.3    Muleris, M.4    Parc, R.5    Thomas, G.6
  • 19
    • 0030202884 scopus 로고    scopus 로고
    • Exceptions to the rule: Individuals with FAP specific CHRPE and mutations in exon 6 of the APC gene
    • Pack K, Smith-Ravin J, Phillips RKS, Hodgson SV (1996) Exceptions to the rule: individuals with FAP specific CHRPE and mutations in exon 6 of the APC gene. Clin Genet 50:110-111
    • (1996) Clin Genet , vol.50 , pp. 110-111
    • Pack, K.1    Smith-Ravin, J.2    Phillips, R.K.S.3    Hodgson, S.V.4
  • 21
    • 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 Dev 5:66-71
    • (1995) Curr Opin Genet Dev , vol.5 , pp. 66-71
    • Polakis, P.1
  • 22
    • 0028080490 scopus 로고
    • APC mutation analysis by chemical cleavage of mismatch and a protein truncation assay in familial adenomatous polyposis
    • Presser J, Condie A, Wright M, Horn JM, Fantes JA, Wyllie AH, Dunlop MG (1994) APC mutation analysis by chemical cleavage of mismatch and a protein truncation assay in familial adenomatous polyposis. Br J Cancer 70:841-846
    • (1994) Br J Cancer , vol.70 , pp. 841-846
    • Presser, J.1    Condie, A.2    Wright, M.3    Horn, J.M.4    Fantes, J.A.5    Wyllie, A.H.6    Dunlop, M.G.7
  • 23
    • 0029100951 scopus 로고
    • Alternatively spliced adenomatous polyposis coli (APC) gene transcripts that delete exons mutated in attenuated APC
    • Samowitz WS, Thliveris A, Spirio LN, White R (1995) Alternatively spliced adenomatous polyposis coli (APC) gene transcripts that delete exons mutated in attenuated APC. Cancer Res 55:3732-3734
    • (1995) Cancer Res , vol.55 , pp. 3732-3734
    • Samowitz, W.S.1    Thliveris, A.2    Spirio, L.N.3    White, R.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.