Combined Protein C and Protein S Deficiency in a Family with Repetitive Thromboembolism and Segregated Gene Mutations
A young man with repetitive deep venous thrombosis of the legs and the inferior vena cava, and his family were eventually diagnosed by means of molecular genetic analysis as having both hereditary protein C and protein S deficiency. There have been a few reports of families with combined protein C a...
Gespeichert in:
| Veröffentlicht in: | Internal Medicine 2003, Vol.42(3), pp.268-272 |
|---|---|
| Hauptverfasser: | , , , , , , , , , |
| Format: | Artikel |
| Sprache: | eng |
| Schlagworte: | |
| Online-Zugang: | Volltext |
| Tags: |
Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!
|
| container_end_page | 272 |
|---|---|
| container_issue | 3 |
| container_start_page | 268 |
| container_title | Internal Medicine |
| container_volume | 42 |
| creator | HAYASHIDA, Mie YAMADA, Hiroyoshi YAMAZAKI, Satoshi NOMURA, Hiroshi YOSHIMURA, Kazuhiko KiTAHARA, Osamu MOMOSE, Kunio KUBO, Keishi KURIHARA, Masako HAMASAKI, Naotaka |
| description | A young man with repetitive deep venous thrombosis of the legs and the inferior vena cava, and his family were eventually diagnosed by means of molecular genetic analysis as having both hereditary protein C and protein S deficiency. There have been a few reports of families with combined protein C and protein S deficiency and only one report of such a family characterized at the DNA level. This was the first reported family in Japan with combined deficiency of protein C and protein S accompanied by segregation of gene lesions. (Internal Medicine 42: 268-272, 2003) |
| doi_str_mv | 10.2169/internalmedicine.42.268 |
| format | Article |
| fullrecord | <record><control><sourceid>proquest_cross</sourceid><recordid>TN_cdi_proquest_miscellaneous_73221436</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sourcerecordid>73221436</sourcerecordid><originalsourceid>FETCH-LOGICAL-c4668-ff74092f92b7bb8a8c4504745de96960f69140bb295afbf23992b88262df22523</originalsourceid><addsrcrecordid>eNplkEFvEzEQhS0EomnhL4AvcNtgj7279hEF2iIVUdFyXnmdceJq1xtsLyj_HpdEjQQHjzXyN2-eHyFvOVsCb_QHHzLGYIYR1976gEsJS2jUM7LgQuqqBVE_JwumuaqglDNyntIDY0K1Gl6SMw4tq1stFmReTWNfBNb0Nk4ZfaArasKpu6Of0JUVGOyelt7QSzP6YU9_-7yl33GH2Wf_C-n9NhalCcsZfBr_itzhJuLG5KJ-hQHp1zmb7KeQXpEXzgwJXx_vC_Lj8vP96rq6-Xb1ZfXxprKyaVTlXCuZBqehb_teGWVlzWQr6zXqRjfMNZpL1vega-N6B0IXUiloYO0AahAX5P1BdxennzOm3I0-WRwGE3CaU9cKAC5FU8D2ANo4pRTRdbvoRxP3HWfdY-Ldv4l3ErqSeJl8c1wx9-XtNHeMuADvjoBJ1gwummB9OnFSaVUzXbjbA_eQstngE2Bi9nbA_wzw8tlHE-JQipcn1G5N7DCIP_ikrI8</addsrcrecordid><sourcetype>Aggregation Database</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>73221436</pqid></control><display><type>article</type><title>Combined Protein C and Protein S Deficiency in a Family with Repetitive Thromboembolism and Segregated Gene Mutations</title><source>MEDLINE</source><source>Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals</source><source>J-STAGE (Japan Science & Technology Information Aggregator, Electronic) Freely Available Titles - Japanese</source><creator>HAYASHIDA, Mie ; YAMADA, Hiroyoshi ; YAMAZAKI, Satoshi ; NOMURA, Hiroshi ; YOSHIMURA, Kazuhiko ; KiTAHARA, Osamu ; MOMOSE, Kunio ; KUBO, Keishi ; KURIHARA, Masako ; HAMASAKI, Naotaka</creator><creatorcontrib>HAYASHIDA, Mie ; YAMADA, Hiroyoshi ; YAMAZAKI, Satoshi ; NOMURA, Hiroshi ; YOSHIMURA, Kazuhiko ; KiTAHARA, Osamu ; MOMOSE, Kunio ; KUBO, Keishi ; KURIHARA, Masako ; HAMASAKI, Naotaka</creatorcontrib><description>A young man with repetitive deep venous thrombosis of the legs and the inferior vena cava, and his family were eventually diagnosed by means of molecular genetic analysis as having both hereditary protein C and protein S deficiency. There have been a few reports of families with combined protein C and protein S deficiency and only one report of such a family characterized at the DNA level. This was the first reported family in Japan with combined deficiency of protein C and protein S accompanied by segregation of gene lesions. (Internal Medicine 42: 268-272, 2003)</description><identifier>ISSN: 0918-2918</identifier><identifier>EISSN: 1349-7235</identifier><identifier>DOI: 10.2169/internalmedicine.42.268</identifier><identifier>PMID: 12705793</identifier><language>eng</language><publisher>Tokyo: The Japanese Society of Internal Medicine</publisher><subject>Adult ; Biological and medical sciences ; Chromosome Segregation ; combined deficiency ; DNA Mutational Analysis ; genetic analysis ; Genotype ; Hematologic and hematopoietic diseases ; Humans ; Male ; Medical sciences ; Platelet diseases and coagulopathies ; Point Mutation ; protein C ; Protein C Deficiency - complications ; Protein C Deficiency - genetics ; protein S ; Protein S Deficiency - complications ; Protein S Deficiency - genetics ; Recurrence ; Thromboembolism - complications ; Thromboembolism - genetics ; venous thrombosis ; Venous Thrombosis - complications ; Venous Thrombosis - genetics</subject><ispartof>Internal Medicine, 2003, Vol.42(3), pp.268-272</ispartof><rights>The Japanese Society of Internal Medicine</rights><rights>2003 INIST-CNRS</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c4668-ff74092f92b7bb8a8c4504745de96960f69140bb295afbf23992b88262df22523</citedby></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,780,784,1881,27915,27916</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=14898509$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/12705793$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>HAYASHIDA, Mie</creatorcontrib><creatorcontrib>YAMADA, Hiroyoshi</creatorcontrib><creatorcontrib>YAMAZAKI, Satoshi</creatorcontrib><creatorcontrib>NOMURA, Hiroshi</creatorcontrib><creatorcontrib>YOSHIMURA, Kazuhiko</creatorcontrib><creatorcontrib>KiTAHARA, Osamu</creatorcontrib><creatorcontrib>MOMOSE, Kunio</creatorcontrib><creatorcontrib>KUBO, Keishi</creatorcontrib><creatorcontrib>KURIHARA, Masako</creatorcontrib><creatorcontrib>HAMASAKI, Naotaka</creatorcontrib><title>Combined Protein C and Protein S Deficiency in a Family with Repetitive Thromboembolism and Segregated Gene Mutations</title><title>Internal Medicine</title><addtitle>Intern. Med.</addtitle><description>A young man with repetitive deep venous thrombosis of the legs and the inferior vena cava, and his family were eventually diagnosed by means of molecular genetic analysis as having both hereditary protein C and protein S deficiency. There have been a few reports of families with combined protein C and protein S deficiency and only one report of such a family characterized at the DNA level. This was the first reported family in Japan with combined deficiency of protein C and protein S accompanied by segregation of gene lesions. (Internal Medicine 42: 268-272, 2003)</description><subject>Adult</subject><subject>Biological and medical sciences</subject><subject>Chromosome Segregation</subject><subject>combined deficiency</subject><subject>DNA Mutational Analysis</subject><subject>genetic analysis</subject><subject>Genotype</subject><subject>Hematologic and hematopoietic diseases</subject><subject>Humans</subject><subject>Male</subject><subject>Medical sciences</subject><subject>Platelet diseases and coagulopathies</subject><subject>Point Mutation</subject><subject>protein C</subject><subject>Protein C Deficiency - complications</subject><subject>Protein C Deficiency - genetics</subject><subject>protein S</subject><subject>Protein S Deficiency - complications</subject><subject>Protein S Deficiency - genetics</subject><subject>Recurrence</subject><subject>Thromboembolism - complications</subject><subject>Thromboembolism - genetics</subject><subject>venous thrombosis</subject><subject>Venous Thrombosis - complications</subject><subject>Venous Thrombosis - genetics</subject><issn>0918-2918</issn><issn>1349-7235</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2003</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNplkEFvEzEQhS0EomnhL4AvcNtgj7279hEF2iIVUdFyXnmdceJq1xtsLyj_HpdEjQQHjzXyN2-eHyFvOVsCb_QHHzLGYIYR1976gEsJS2jUM7LgQuqqBVE_JwumuaqglDNyntIDY0K1Gl6SMw4tq1stFmReTWNfBNb0Nk4ZfaArasKpu6Of0JUVGOyelt7QSzP6YU9_-7yl33GH2Wf_C-n9NhalCcsZfBr_itzhJuLG5KJ-hQHp1zmb7KeQXpEXzgwJXx_vC_Lj8vP96rq6-Xb1ZfXxprKyaVTlXCuZBqehb_teGWVlzWQr6zXqRjfMNZpL1vega-N6B0IXUiloYO0AahAX5P1BdxennzOm3I0-WRwGE3CaU9cKAC5FU8D2ANo4pRTRdbvoRxP3HWfdY-Ldv4l3ErqSeJl8c1wx9-XtNHeMuADvjoBJ1gwummB9OnFSaVUzXbjbA_eQstngE2Bi9nbA_wzw8tlHE-JQipcn1G5N7DCIP_ikrI8</recordid><startdate>20030301</startdate><enddate>20030301</enddate><creator>HAYASHIDA, Mie</creator><creator>YAMADA, Hiroyoshi</creator><creator>YAMAZAKI, Satoshi</creator><creator>NOMURA, Hiroshi</creator><creator>YOSHIMURA, Kazuhiko</creator><creator>KiTAHARA, Osamu</creator><creator>MOMOSE, Kunio</creator><creator>KUBO, Keishi</creator><creator>KURIHARA, Masako</creator><creator>HAMASAKI, Naotaka</creator><general>The Japanese Society of Internal Medicine</general><general>Japanese Society of Internal Medicine</general><scope>IQODW</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7X8</scope></search><sort><creationdate>20030301</creationdate><title>Combined Protein C and Protein S Deficiency in a Family with Repetitive Thromboembolism and Segregated Gene Mutations</title><author>HAYASHIDA, Mie ; YAMADA, Hiroyoshi ; YAMAZAKI, Satoshi ; NOMURA, Hiroshi ; YOSHIMURA, Kazuhiko ; KiTAHARA, Osamu ; MOMOSE, Kunio ; KUBO, Keishi ; KURIHARA, Masako ; HAMASAKI, Naotaka</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c4668-ff74092f92b7bb8a8c4504745de96960f69140bb295afbf23992b88262df22523</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2003</creationdate><topic>Adult</topic><topic>Biological and medical sciences</topic><topic>Chromosome Segregation</topic><topic>combined deficiency</topic><topic>DNA Mutational Analysis</topic><topic>genetic analysis</topic><topic>Genotype</topic><topic>Hematologic and hematopoietic diseases</topic><topic>Humans</topic><topic>Male</topic><topic>Medical sciences</topic><topic>Platelet diseases and coagulopathies</topic><topic>Point Mutation</topic><topic>protein C</topic><topic>Protein C Deficiency - complications</topic><topic>Protein C Deficiency - genetics</topic><topic>protein S</topic><topic>Protein S Deficiency - complications</topic><topic>Protein S Deficiency - genetics</topic><topic>Recurrence</topic><topic>Thromboembolism - complications</topic><topic>Thromboembolism - genetics</topic><topic>venous thrombosis</topic><topic>Venous Thrombosis - complications</topic><topic>Venous Thrombosis - genetics</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>HAYASHIDA, Mie</creatorcontrib><creatorcontrib>YAMADA, Hiroyoshi</creatorcontrib><creatorcontrib>YAMAZAKI, Satoshi</creatorcontrib><creatorcontrib>NOMURA, Hiroshi</creatorcontrib><creatorcontrib>YOSHIMURA, Kazuhiko</creatorcontrib><creatorcontrib>KiTAHARA, Osamu</creatorcontrib><creatorcontrib>MOMOSE, Kunio</creatorcontrib><creatorcontrib>KUBO, Keishi</creatorcontrib><creatorcontrib>KURIHARA, Masako</creatorcontrib><creatorcontrib>HAMASAKI, Naotaka</creatorcontrib><collection>Pascal-Francis</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><jtitle>Internal Medicine</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>HAYASHIDA, Mie</au><au>YAMADA, Hiroyoshi</au><au>YAMAZAKI, Satoshi</au><au>NOMURA, Hiroshi</au><au>YOSHIMURA, Kazuhiko</au><au>KiTAHARA, Osamu</au><au>MOMOSE, Kunio</au><au>KUBO, Keishi</au><au>KURIHARA, Masako</au><au>HAMASAKI, Naotaka</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Combined Protein C and Protein S Deficiency in a Family with Repetitive Thromboembolism and Segregated Gene Mutations</atitle><jtitle>Internal Medicine</jtitle><addtitle>Intern. Med.</addtitle><date>2003-03-01</date><risdate>2003</risdate><volume>42</volume><issue>3</issue><spage>268</spage><epage>272</epage><pages>268-272</pages><issn>0918-2918</issn><eissn>1349-7235</eissn><abstract>A young man with repetitive deep venous thrombosis of the legs and the inferior vena cava, and his family were eventually diagnosed by means of molecular genetic analysis as having both hereditary protein C and protein S deficiency. There have been a few reports of families with combined protein C and protein S deficiency and only one report of such a family characterized at the DNA level. This was the first reported family in Japan with combined deficiency of protein C and protein S accompanied by segregation of gene lesions. (Internal Medicine 42: 268-272, 2003)</abstract><cop>Tokyo</cop><pub>The Japanese Society of Internal Medicine</pub><pmid>12705793</pmid><doi>10.2169/internalmedicine.42.268</doi><tpages>5</tpages><oa>free_for_read</oa></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 0918-2918 |
| ispartof | Internal Medicine, 2003, Vol.42(3), pp.268-272 |
| issn | 0918-2918 1349-7235 |
| language | eng |
| recordid | cdi_proquest_miscellaneous_73221436 |
| source | MEDLINE; Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals; J-STAGE (Japan Science & Technology Information Aggregator, Electronic) Freely Available Titles - Japanese |
| subjects | Adult Biological and medical sciences Chromosome Segregation combined deficiency DNA Mutational Analysis genetic analysis Genotype Hematologic and hematopoietic diseases Humans Male Medical sciences Platelet diseases and coagulopathies Point Mutation protein C Protein C Deficiency - complications Protein C Deficiency - genetics protein S Protein S Deficiency - complications Protein S Deficiency - genetics Recurrence Thromboembolism - complications Thromboembolism - genetics venous thrombosis Venous Thrombosis - complications Venous Thrombosis - genetics |
| title | Combined Protein C and Protein S Deficiency in a Family with Repetitive Thromboembolism and Segregated Gene Mutations |
| url | https://sfx.bib-bvb.de/sfx_tum?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2025-01-15T03%3A42%3A34IST&url_ver=Z39.88-2004&url_ctx_fmt=infofi/fmt:kev:mtx:ctx&rfr_id=info:sid/primo.exlibrisgroup.com:primo3-Article-proquest_cross&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.genre=article&rft.atitle=Combined%20Protein%20C%20and%20Protein%20S%20Deficiency%20in%20a%20Family%20with%20Repetitive%20Thromboembolism%20and%20Segregated%20Gene%20Mutations&rft.jtitle=Internal%20Medicine&rft.au=HAYASHIDA,%20Mie&rft.date=2003-03-01&rft.volume=42&rft.issue=3&rft.spage=268&rft.epage=272&rft.pages=268-272&rft.issn=0918-2918&rft.eissn=1349-7235&rft_id=info:doi/10.2169/internalmedicine.42.268&rft_dat=%3Cproquest_cross%3E73221436%3C/proquest_cross%3E%3Curl%3E%3C/url%3E&disable_directlink=true&sfx.directlink=off&sfx.report_link=0&rft_id=info:oai/&rft_pqid=73221436&rft_id=info:pmid/12705793&rfr_iscdi=true |