Three novel mutations in the von Hippel-Lindau tumour suppressor gene in Italian patients
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| Published in: | Human mutation Vol. 11; no. S1; pp. S268 - S270 |
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| Main Authors: | , , , , , |
| Format: | Journal Article |
| Language: | English |
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Wiley Subscription Services, Inc., A Wiley Company
1998
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| Author | Daniele, Salvatore Mandich, Paola Trojani, Alessandra Ajmar, Franco Bellone, Emilia Montera, Mariapina |
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| Author_xml | – sequence: 1 givenname: Paola surname: Mandich fullname: Mandich, Paola organization: Institute of Biology and Genetics, University of Genoa, Genoa, Italy – sequence: 2 givenname: Mariapina surname: Montera fullname: Montera, Mariapina organization: Institute of Biology and Genetics, University of Genoa, Genoa, Italy – sequence: 3 givenname: Emilia surname: Bellone fullname: Bellone, Emilia organization: Institute of Biology and Genetics, University of Genoa, Genoa, Italy – sequence: 4 givenname: Alessandra surname: Trojani fullname: Trojani, Alessandra organization: Institute of Biology and Genetics, University of Genoa, Genoa, Italy – sequence: 5 givenname: Salvatore surname: Daniele fullname: Daniele, Salvatore organization: Department of Medical Surgery, University of Perugia, Perugia, Italy – sequence: 6 givenname: Franco surname: Ajmar fullname: Ajmar, Franco organization: Institute of Biology and Genetics, University of Genoa, Genoa, Italy |
| BackLink | https://www.ncbi.nlm.nih.gov/pubmed/9452106$$D View this record in MEDLINE/PubMed |
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| Cites_doi | 10.1136/jmg.28.7.443 10.1038/332268a0 10.1007/s004390050206 10.1038/ng0594-85 10.1016/0003-2697(91)90120-I 10.1126/science.8493574 10.1002/humu.1380050109 10.1093/hmg/3.4.595 10.1136/jmg.33.4.328 10.1126/science.7660130 |
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| References | Bassam BJ, Caetano-Anolles G, Gresshoff PM (1991) Fast and sensitive staining of DNA in polyacrylamide gels. Anal Biochem 196: 80-83. Kibel A, Iliopoulos O, DeCaprio JA, Kaelin WG (1995) Binding of the von Hippel-Lindau to elongin B and C. Science 269: 1444-1446. Latif F, Tory K, Gnarra J, Yao M, Duh FM, Orcutt ML, Stackhouse T, Kuzmin I, Modi W, Geil L, Schmidt L, Zhou F, Li H, Wei MH, Chen F, Glenn G, Choyke P, Walther MM, Weng Y, Duan DR, Dean M, Glavac D, Richards FM, Crossey PA, Ferguson-Smith MA, Le Paslier D, Chumakov I, Cohen D, Chinault CA, Maher ER, Linehan WM, Zbar B, Lerman MI (1993) Identification of the von Hippel-Lindau disease tumour suppressor gene. Science 260: 1317-1320. Glavac D, Neumann HPH, Wittke C, Jaenig H, Masek O, Streicher T, Pausch F, Hengelhardt D, Plate KH, Hofler H, Che F, Zbar B, Brauch H (1996) Mutations in the VHL tumor suppressor gene and associated lesions in families with von Hippel-Lindau disease from Central Europe. Hum Genet 98: 271-280. Seizinger BR, Rouleau GA, Ozelius LJ, Lane AH, Farmer GE, Lamiell JM, Haines J, Yuen JW, Collins D, Majoor-Krakauer D, et al. (1998) Von Hippel-Lindau disease maps to the region of chromosome 3 associated with renal cell carcinoma. Nature 332: 268-269. Maher ER, Iselius L, Yates JRW, Littler M, Benjamin C, Harris R, Sampson J, Williams A, Ferguson-Smith MA, Morton N (1991) Von Hippel-Lindau disease: A genetic study. J Med Genet 23: 443-447. Chen F, Kishida T, Yao M, Hustad T, Glavac D, Dean M, Gnarra IR, Orcutt ML, Duh FM, Glenn G, Green J, Hsia YE, Lamiell J, Li H, Wei MH, Schimdt I, Tory K, Kuzmin I, Stackhouse T, Latif F, Linehan WM, Lerman MI, Zbar B (1995) Germ line mutations in the von Hippel-Lindau disease tumour suppressor gene and correlation with disease phenotype. Hum Mutat 5: 66-75. Maher ER, Webster AR, Richards FM, Green JS, Crossey PA, Payne SJ, Moore AT (1996) Phenotypic expression in von Hippel-Lindau disease: Correlations with germline VHL gene mutations. J Med Genet 33: 328-332. Richards FM, Crossey PA, Phipps ME, Foster K, Latif F, Evans G, Sampson J, Lerman MI, Zbar B, Affara NA, Ferguson-Smith MA, Maher ER (1994) Detailed mapping of germline deletions of the von Hippel-Lindau disease tumor suppressor gene. Hum Mol Genet 3: 595-598. Gnarra JR, Tory K, Weng Y, Schmidt L, Wei MH, Li H, Latif F, Liu S, Chen F, Duh FM, Lubensky I, Duan DR, Florence C, Pozzatti R, Walther MM, Bander NH, Grossman HB, Brauch H, Pomer S, Brooks JD, Isaacs WB, Lerman MI, Zbar B, Linehan WM (1994) Mutation of the VHL tumour suppressor gene in renal carcinoma. Nature Genet 7: 85-90. 1993; 260 1991; 196 1995; 269 1991; 23 1994; 3 1998; 332 1996; 98 1995; 5 1994; 7 1996; 33 Bassam (10.1002/humu.1380110185-BIB1|cit1) 1991; 196 Maher (10.1002/humu.1380110185-BIB8|cit8) 1996; 33 Gnarra (10.1002/humu.1380110185-BIB4|cit4) 1994; 7 Kibel (10.1002/humu.1380110185-BIB5|cit5) 1995; 269 Chen (10.1002/humu.1380110185-BIB2|cit2) 1995; 5 Richards (10.1002/humu.1380110185-BIB9|cit9) 1994; 3 Latif (10.1002/humu.1380110185-BIB6|cit6) 1993; 260 Maher (10.1002/humu.1380110185-BIB7|cit7) 1991; 23 Glavac (10.1002/humu.1380110185-BIB3|cit3) 1996; 98 Seizinger (10.1002/humu.1380110185-BIB10|cit10) 1998; 332 |
| References_xml | – volume: 196 start-page: 80 year: 1991 end-page: 83 article-title: Fast and sensitive staining of DNA in polyacrylamide gels publication-title: Anal Biochem – volume: 5 start-page: 66 year: 1995 end-page: 75 article-title: Germ line mutations in the von Hippel‐Lindau disease tumour suppressor gene and correlation with disease phenotype publication-title: Hum Mutat – volume: 98 start-page: 271 year: 1996 end-page: 280 article-title: Mutations in the VHL tumor suppressor gene and associated lesions in families with von Hippel‐Lindau disease from Central Europe publication-title: Hum Genet – volume: 7 start-page: 85 year: 1994 end-page: 90 article-title: Mutation of the VHL tumour suppressor gene in renal carcinoma publication-title: Nature Genet – volume: 23 start-page: 443 year: 1991 end-page: 447 article-title: Von Hippel‐Lindau disease: A genetic study publication-title: J Med Genet – volume: 332 start-page: 268 year: 1998 end-page: 269 article-title: Von Hippel‐Lindau disease maps to the region of chromosome 3 associated with renal cell carcinoma publication-title: Nature – volume: 33 start-page: 328 year: 1996 end-page: 332 article-title: Phenotypic expression in von Hippel‐Lindau disease: Correlations with germline VHL gene mutations publication-title: J Med Genet – volume: 260 start-page: 1317 year: 1993 end-page: 1320 article-title: Identification of the von Hippel‐Lindau disease tumour suppressor gene publication-title: Science – volume: 3 start-page: 595 year: 1994 end-page: 598 article-title: Detailed mapping of germline deletions of the von Hippel‐Lindau disease tumor suppressor gene publication-title: Hum Mol Genet – volume: 269 start-page: 1444 year: 1995 end-page: 1446 article-title: Binding of the von Hippel‐Lindau to elongin B and C publication-title: Science – volume: 23 start-page: 443 year: 1991 ident: 10.1002/humu.1380110185-BIB7|cit7 article-title: Von Hippel-Lindau disease: A genetic study publication-title: J Med Genet doi: 10.1136/jmg.28.7.443 contributor: fullname: Maher – volume: 332 start-page: 268 year: 1998 ident: 10.1002/humu.1380110185-BIB10|cit10 article-title: Von Hippel-Lindau disease maps to the region of chromosome 3 associated with renal cell carcinoma publication-title: Nature doi: 10.1038/332268a0 contributor: fullname: Seizinger – volume: 98 start-page: 271 year: 1996 ident: 10.1002/humu.1380110185-BIB3|cit3 article-title: Mutations in the VHL tumor suppressor gene and associated lesions in families with von Hippel-Lindau disease from Central Europe publication-title: Hum Genet doi: 10.1007/s004390050206 contributor: fullname: Glavac – volume: 7 start-page: 85 year: 1994 ident: 10.1002/humu.1380110185-BIB4|cit4 article-title: Mutation of the VHL tumour suppressor gene in renal carcinoma publication-title: Nature Genet doi: 10.1038/ng0594-85 contributor: fullname: Gnarra – volume: 196 start-page: 80 year: 1991 ident: 10.1002/humu.1380110185-BIB1|cit1 article-title: Fast and sensitive staining of DNA in polyacrylamide gels publication-title: Anal Biochem doi: 10.1016/0003-2697(91)90120-I contributor: fullname: Bassam – volume: 260 start-page: 1317 year: 1993 ident: 10.1002/humu.1380110185-BIB6|cit6 article-title: Identification of the von Hippel-Lindau disease tumour suppressor gene publication-title: Science doi: 10.1126/science.8493574 contributor: fullname: Latif – volume: 5 start-page: 66 year: 1995 ident: 10.1002/humu.1380110185-BIB2|cit2 article-title: Germ line mutations in the von Hippel-Lindau disease tumour suppressor gene and correlation with disease phenotype publication-title: Hum Mutat doi: 10.1002/humu.1380050109 contributor: fullname: Chen – volume: 3 start-page: 595 year: 1994 ident: 10.1002/humu.1380110185-BIB9|cit9 article-title: Detailed mapping of germline deletions of the von Hippel-Lindau disease tumor suppressor gene publication-title: Hum Mol Genet doi: 10.1093/hmg/3.4.595 contributor: fullname: Richards – volume: 33 start-page: 328 year: 1996 ident: 10.1002/humu.1380110185-BIB8|cit8 article-title: Phenotypic expression in von Hippel-Lindau disease: Correlations with germline VHL gene mutations publication-title: J Med Genet doi: 10.1136/jmg.33.4.328 contributor: fullname: Maher – volume: 269 start-page: 1444 year: 1995 ident: 10.1002/humu.1380110185-BIB5|cit5 article-title: Binding of the von Hippel-Lindau to elongin B and C publication-title: Science doi: 10.1126/science.7660130 contributor: fullname: Kibel |
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| SubjectTerms | Amino Acid Substitution Base Sequence Codon, Terminator - genetics DNA - chemistry DNA - genetics DNA Mutational Analysis Family Health Female Humans Italy Ligases Male Mutation Mutation, Missense Point Mutation Polymorphism, Single-Stranded Conformational Proteins - genetics Sequence Deletion Tumor Suppressor Proteins Ubiquitin-Protein Ligases von Hippel-Lindau Disease - genetics von Hippel-Lindau Disease - pathology Von Hippel-Lindau Tumor Suppressor Protein |
| Title | Three novel mutations in the von Hippel-Lindau tumour suppressor gene in Italian patients |
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