Germline mutations detected in the von Hippel-Lindau disease tumor suppressor gene by southern blot and direct genomic DNA sequencing
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| Veröffentlicht in: | Human mutation 1998, Vol.11 (S1), p.S31-S33 |
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| container_end_page | S33 |
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| container_issue | S1 |
| container_start_page | S31 |
| container_title | Human mutation |
| container_volume | 11 |
| creator | Li, Chunde Weber, Günther Ekman, Peter Lagercrantz, Jacob Norlen, Bo Johan Åkerström, Göran Nordenskjöld, Magnus Bergerheim, Ulf S. R. |
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| doi_str_mv | 10.1002/humu.1380110111 |
| format | Article |
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R.</creatorcontrib><title>Germline mutations detected in the von Hippel-Lindau disease tumor suppressor gene by southern blot and direct genomic DNA sequencing</title><title>Human mutation</title><addtitle>Hum. Mutat</addtitle><subject>Amino Acid Substitution</subject><subject>Base Sequence</subject><subject>Blotting, Southern</subject><subject>DNA - chemistry</subject><subject>DNA - genetics</subject><subject>DNA Mutational Analysis</subject><subject>Family Health</subject><subject>Female</subject><subject>Frameshift Mutation</subject><subject>Genes, Tumor Suppressor - genetics</subject><subject>Germ-Line Mutation</subject><subject>germline mutation</subject><subject>Humans</subject><subject>Male</subject><subject>Pedigree</subject><subject>renal cell carcinoma</subject><subject>Sequence Analysis, DNA</subject><subject>Sweden</subject><subject>von Hippel-Lindau disease</subject><subject>von Hippel-Lindau Disease - genetics</subject><issn>1059-7794</issn><issn>1098-1004</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1998</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>D8T</sourceid><recordid>eNqFkUFv1DAUhCMEKqVw5oTkE7e0dhzHiTiVUnaRtu2F1R4t23lpTRM72DHt_gD-N442WsQJyZKfPDOfnjVZ9p7gc4JxcfEQh3hOaI0JSYe8yE4Jbuo8aeXLeWZNznlTvs7ehPADY1wzRk-yk6ZkBabFafZ7BX7ojQU0xElOxtmAWphAT9AiY9H0AOiXs2htxhH6fGNsKyNqTQAZAE1xcB6FOI4eQkjjPSSS2qPgYkp6i1TvJiRtmyI-QWeDG4xGX24vUYCfEaw29v5t9qqTfYB3y32Wbb9ef79a55u71bery02uaUNJrooWNK1J0WnCGIaCUdwRjamirOPQMJBKEsmVLqkuy4JIWqq247oCxZWq6FmWH7jhCcaoxOjNIP1eOGnE8vSYJhAlZXWNk__jwT96l3YNkxhM0ND30oKLQfCm4kXdzMaLg1F7F4KH7ogmWMxFibko8beolPiwoKMaoD36l2aS_umgP5ke9v_DifX2ZvsPffmoCRM8H9PSP4qKU87E7nYlMC13hHyuxI7-ARwCsrc</recordid><startdate>1998</startdate><enddate>1998</enddate><creator>Li, Chunde</creator><creator>Weber, Günther</creator><creator>Ekman, Peter</creator><creator>Lagercrantz, Jacob</creator><creator>Norlen, Bo Johan</creator><creator>Åkerström, Göran</creator><creator>Nordenskjöld, Magnus</creator><creator>Bergerheim, Ulf S. 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| fulltext | fulltext |
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| ispartof | Human mutation, 1998, Vol.11 (S1), p.S31-S33 |
| issn | 1059-7794 1098-1004 |
| language | eng |
| recordid | cdi_swepub_primary_oai_swepub_ki_se_435880 |
| source | MEDLINE; Wiley Online Library Journals Frontfile Complete; SWEPUB Freely available online |
| subjects | Amino Acid Substitution Base Sequence Blotting, Southern DNA - chemistry DNA - genetics DNA Mutational Analysis Family Health Female Frameshift Mutation Genes, Tumor Suppressor - genetics Germ-Line Mutation germline mutation Humans Male Pedigree renal cell carcinoma Sequence Analysis, DNA Sweden von Hippel-Lindau disease von Hippel-Lindau Disease - genetics |
| title | Germline mutations detected in the von Hippel-Lindau disease tumor suppressor gene by southern blot and direct genomic DNA sequencing |
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