Protein C deficiency and thromboembolism: recurrent mutation at Arg 306 in the protein C gene

A CGA---TGA transition in the protein C gene, resulting in an Arg306---Term substitution, was detected in a Swedish kindred with thrombotic disease whose members exhibit plasma protein C activity/antigen levels consistent with type I protein C deficiency. Although an identical lesion has been report...

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Veröffentlicht in:	Human genetics 1992-03, Vol.88 (5), p.586-588
Hauptverfasser:	Grundy, C B, Schulman, S, Krawczak, M, Kobosko, J, Kakkar, V V, Cooper, D N
Format:	Artikel
Sprache:	eng
Schlagworte:	Amino Acid Sequence Arginine Base Sequence Exons Female genes Genetic Carrier Screening Humans Male Molecular Sequence Data Mutation Oligodeoxyribonucleotides Pedigree Polymerase Chain Reaction - methods Polymorphism, Restriction Fragment Length Protein C - genetics Protein C Deficiency restriction fragment length polymorphism thromboembolism Thromboembolism - genetics
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container_issue	5
container_start_page	586
container_title	Human genetics
container_volume	88
creator	Grundy, C B Schulman, S Krawczak, M Kobosko, J Kakkar, V V Cooper, D N
description	A CGA---TGA transition in the protein C gene, resulting in an Arg306---Term substitution, was detected in a Swedish kindred with thrombotic disease whose members exhibit plasma protein C activity/antigen levels consistent with type I protein C deficiency. Although an identical lesion has been reported previously in several Dutch families, RFLP typing indicated that the Dutch and Swedish mutations were unlikely to be identical by descent and probably arose by recurrent mutation.
doi_str_mv	10.1007/BF00219350
format	Article
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Although an identical lesion has been reported previously in several Dutch families, RFLP typing indicated that the Dutch and Swedish mutations were unlikely to be identical by descent and probably arose by recurrent mutation.</description><subject>Amino Acid Sequence</subject><subject>Arginine</subject><subject>Base Sequence</subject><subject>Exons</subject><subject>Female</subject><subject>genes</subject><subject>Genetic Carrier Screening</subject><subject>Humans</subject><subject>Male</subject><subject>Molecular Sequence Data</subject><subject>Mutation</subject><subject>Oligodeoxyribonucleotides</subject><subject>Pedigree</subject><subject>Polymerase Chain Reaction - methods</subject><subject>Polymorphism, Restriction Fragment Length</subject><subject>Protein C - genetics</subject><subject>Protein C Deficiency</subject><subject>restriction fragment length polymorphism</subject><subject>thromboembolism</subject><subject>Thromboembolism - genetics</subject><issn>0340-6717</issn><issn>1432-1203</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1992</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqFkDFPwzAQRi0EKqWwsCN5YkAKnH2Ok7CVigJSJRhgRJHjXNqgJim2M_TfE9SKjgynb3l6Jz3GLgXcCoDk7mEOIEWGMRyxsVAoIyEBj9kYUEGkE5GcsjPvvwBEnMl4xEYCVQpKj9nnm-sC1S2f8ZKq2tbU2i03bcnDynVN0dFw69o399yR7Z2jNvCmDybUXctN4FO35AiaD4qwIr750y2ppXN2Upm1p4v9TtjH_PF99hwtXp9eZtNFZFFgiGJM08xIRbEy2ijKwNjSksXSllKbAo21FQ4rC2MLXaZoE2ETqWyV6gpTnLDrnXd4_92TD3lTe0vrtWmp632eyDRWkMh_QaGFRoXZAN7sQOs67x1V-cbVjXHbXED-Gz0_RB_gq721LxoqD-iuMv4Ardt8BQ</recordid><startdate>19920301</startdate><enddate>19920301</enddate><creator>Grundy, C B</creator><creator>Schulman, S</creator><creator>Krawczak, M</creator><creator>Kobosko, J</creator><creator>Kakkar, V V</creator><creator>Cooper, D N</creator><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>7T3</scope><scope>8FD</scope><scope>FR3</scope><scope>P64</scope><scope>RC3</scope><scope>7X8</scope></search><sort><creationdate>19920301</creationdate><title>Protein C deficiency and thromboembolism: recurrent mutation at Arg 306 in the protein C gene</title><author>Grundy, C B ; Schulman, S ; Krawczak, M ; Kobosko, J ; Kakkar, V V ; Cooper, D N</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c313t-53889a24e54a6a4e90acdcec3dcd26ab3accf3ab32bacb6d83c71c724cf86f383</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1992</creationdate><topic>Amino Acid Sequence</topic><topic>Arginine</topic><topic>Base Sequence</topic><topic>Exons</topic><topic>Female</topic><topic>genes</topic><topic>Genetic Carrier Screening</topic><topic>Humans</topic><topic>Male</topic><topic>Molecular Sequence Data</topic><topic>Mutation</topic><topic>Oligodeoxyribonucleotides</topic><topic>Pedigree</topic><topic>Polymerase Chain Reaction - methods</topic><topic>Polymorphism, Restriction Fragment Length</topic><topic>Protein C - genetics</topic><topic>Protein C Deficiency</topic><topic>restriction fragment length polymorphism</topic><topic>thromboembolism</topic><topic>Thromboembolism - genetics</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Grundy, C B</creatorcontrib><creatorcontrib>Schulman, S</creatorcontrib><creatorcontrib>Krawczak, M</creatorcontrib><creatorcontrib>Kobosko, J</creatorcontrib><creatorcontrib>Kakkar, V V</creatorcontrib><creatorcontrib>Cooper, D N</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>Human Genome Abstracts</collection><collection>Technology Research Database</collection><collection>Engineering Research Database</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>Genetics Abstracts</collection><collection>MEDLINE - Academic</collection><jtitle>Human genetics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Grundy, C B</au><au>Schulman, S</au><au>Krawczak, M</au><au>Kobosko, J</au><au>Kakkar, V V</au><au>Cooper, D N</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Protein C deficiency and thromboembolism: recurrent mutation at Arg 306 in the protein C gene</atitle><jtitle>Human genetics</jtitle><addtitle>Hum Genet</addtitle><date>1992-03-01</date><risdate>1992</risdate><volume>88</volume><issue>5</issue><spage>586</spage><epage>588</epage><pages>586-588</pages><issn>0340-6717</issn><eissn>1432-1203</eissn><abstract>A CGA---TGA transition in the protein C gene, resulting in an Arg306---Term substitution, was detected in a Swedish kindred with thrombotic disease whose members exhibit plasma protein C activity/antigen levels consistent with type I protein C deficiency. Although an identical lesion has been reported previously in several Dutch families, RFLP typing indicated that the Dutch and Swedish mutations were unlikely to be identical by descent and probably arose by recurrent mutation.</abstract><cop>Germany</cop><pmid>1348046</pmid><doi>10.1007/BF00219350</doi><tpages>3</tpages></addata></record>
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source	MEDLINE; SpringerLink Journals
subjects	Amino Acid Sequence Arginine Base Sequence Exons Female genes Genetic Carrier Screening Humans Male Molecular Sequence Data Mutation Oligodeoxyribonucleotides Pedigree Polymerase Chain Reaction - methods Polymorphism, Restriction Fragment Length Protein C - genetics Protein C Deficiency restriction fragment length polymorphism thromboembolism Thromboembolism - genetics
title	Protein C deficiency and thromboembolism: recurrent mutation at Arg 306 in the protein C gene
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