The use of genotype-phenotype correlations in mutation analysis for the long QT syndrome
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| Veröffentlicht in: | Journal of medical genetics 2003-02, Vol.40 (2), p.141-145 |
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| container_end_page | 145 |
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| container_issue | 2 |
| container_start_page | 141 |
| container_title | Journal of medical genetics |
| container_volume | 40 |
| creator | Van Langen, I M Birnie, E Alders, M Jongbloed, R J Le Marec, H Wilde, A A M |
| description | |
| doi_str_mv | 10.1136/jmg.40.2.141 |
| format | Article |
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Vascular system ; Cardiomyopathy ; Case studies ; Cation Transport Proteins ; Chromosomes ; Diagnosis ; DNA - chemistry ; DNA - genetics ; DNA diagnosis ; DNA Mutational Analysis ; DNA-Binding Proteins ; Electrocardiography ; ERG1 Potassium Channel ; Ether-A-Go-Go Potassium Channels ; Gene mutations ; Genes ; Genetic aspects ; Genetic disorders ; Genetic research ; Genotype ; Genotype & phenotype ; genotype-phenotype correlations ; Health aspects ; Heart ; Heart diseases ; Humans ; KCNQ Potassium Channels ; KCNQ1 Potassium Channel ; Letter to JMG ; Long QT syndrome ; Long QT Syndrome - genetics ; Long QT Syndrome - pathology ; Long QT Syndrome - physiopathology ; Medical genetics ; Medical sciences ; Methods ; Morphology ; Mutation ; NAV1.5 Voltage-Gated Sodium Channel ; Patients ; Phenotype ; Physiological aspects ; Polymorphism ; Potassium Channels - genetics ; Potassium Channels, Voltage-Gated ; Sodium Channels - genetics ; Trans-Activators ; Transcriptional Regulator ERG</subject><ispartof>Journal of medical genetics, 2003-02, Vol.40 (2), p.141-145</ispartof><rights>Copyright 2003 Journal of Medical Genetics</rights><rights>2003 INIST-CNRS</rights><rights>COPYRIGHT 2003 BMJ Publishing Group Ltd.</rights><rights>Copyright: 2003 Copyright 2003 Journal of Medical Genetics</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-b649t-a72a1d78c304b1326476bc26744d9e69d48a8a97dabdbb36929e1c70dc8c15c3</citedby></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC1735373/pdf/$$EPDF$$P50$$Gpubmedcentral$$H</linktopdf><linktohtml>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC1735373/$$EHTML$$P50$$Gpubmedcentral$$H</linktohtml><link.rule.ids>230,314,727,780,784,885,27924,27925,53791,53793</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=14537457$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/12566525$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Van Langen, I M</creatorcontrib><creatorcontrib>Birnie, E</creatorcontrib><creatorcontrib>Alders, M</creatorcontrib><creatorcontrib>Jongbloed, R J</creatorcontrib><creatorcontrib>Le Marec, H</creatorcontrib><creatorcontrib>Wilde, A A M</creatorcontrib><title>The use of genotype-phenotype correlations in mutation analysis for the long QT syndrome</title><title>Journal of medical genetics</title><addtitle>J Med Genet</addtitle><subject>Age</subject><subject>Analysis</subject><subject>Biological and medical sciences</subject><subject>Cardiac dysrhythmias</subject><subject>Cardiology. Vascular system</subject><subject>Cardiomyopathy</subject><subject>Case studies</subject><subject>Cation Transport Proteins</subject><subject>Chromosomes</subject><subject>Diagnosis</subject><subject>DNA - chemistry</subject><subject>DNA - genetics</subject><subject>DNA diagnosis</subject><subject>DNA Mutational Analysis</subject><subject>DNA-Binding Proteins</subject><subject>Electrocardiography</subject><subject>ERG1 Potassium Channel</subject><subject>Ether-A-Go-Go Potassium Channels</subject><subject>Gene mutations</subject><subject>Genes</subject><subject>Genetic aspects</subject><subject>Genetic disorders</subject><subject>Genetic research</subject><subject>Genotype</subject><subject>Genotype & phenotype</subject><subject>genotype-phenotype correlations</subject><subject>Health aspects</subject><subject>Heart</subject><subject>Heart diseases</subject><subject>Humans</subject><subject>KCNQ Potassium Channels</subject><subject>KCNQ1 Potassium Channel</subject><subject>Letter to JMG</subject><subject>Long QT syndrome</subject><subject>Long QT Syndrome - genetics</subject><subject>Long QT Syndrome - pathology</subject><subject>Long QT Syndrome - physiopathology</subject><subject>Medical genetics</subject><subject>Medical sciences</subject><subject>Methods</subject><subject>Morphology</subject><subject>Mutation</subject><subject>NAV1.5 Voltage-Gated Sodium Channel</subject><subject>Patients</subject><subject>Phenotype</subject><subject>Physiological aspects</subject><subject>Polymorphism</subject><subject>Potassium Channels - genetics</subject><subject>Potassium Channels, Voltage-Gated</subject><subject>Sodium Channels - genetics</subject><subject>Trans-Activators</subject><subject>Transcriptional Regulator ERG</subject><issn>0022-2593</issn><issn>1468-6244</issn><issn>1468-6244</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2003</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>ABUWG</sourceid><sourceid>AFKRA</sourceid><sourceid>AZQEC</sourceid><sourceid>BENPR</sourceid><sourceid>CCPQU</sourceid><sourceid>DWQXO</sourceid><sourceid>GNUQQ</sourceid><recordid>eNp9ks-L1DAUx4Mo7rh68ywBUS92zK8mzUVYBleFZUQoi7eQpulMxjaZTVpx_nuzTtlRWSSH5OV9-L6Xbx4AzzFaYkz5u92wWTK0JEvM8AOwwIxXBSeMPQQLhAgpSCnpGXiS0g4hTAXmj8EZJiXnJSkX4Fu9tXBKFoYObqwP42Fvi_12PkETYrS9Hl3wCToPh2n8HUDtdX9ILsEuRDhmjT74Dfxaw3TwbQyDfQoedbpP9tm8n4P68kO9-lRcffn4eXVxVTScybHQgmjcispQxBpMCWeCN4ZwwVgrLZctq3SlpWh10zYN5ZJIi41ArakMLg09B--PsvupGWxrrB-j7tU-ukHHgwraqb8z3m3VJvxQWNCSCpoFXs8CMdxMNo1qcMnYvtfehikpQaRkhN6CL_8Bd2GK2YaUtSpMEKlElam3R2qje6uc70KuarKzNhcP3nYuX1_ICjNalSzjxT14Xq0dnLmPn-VNDClF2929FCN1Ow4qj4NiSBGVxyHjL_505wTP_5-BVzOgk9F9F7U3Lp04lj1ipTj16dJof97ldfyuuKCiVOvrlbpeo3VdskslM__myDfD7v8t_gKbodm9</recordid><startdate>20030201</startdate><enddate>20030201</enddate><creator>Van Langen, I M</creator><creator>Birnie, E</creator><creator>Alders, M</creator><creator>Jongbloed, R J</creator><creator>Le Marec, H</creator><creator>Wilde, A A M</creator><general>BMJ Publishing Group Ltd</general><general>BMJ</general><general>BMJ Publishing Group LTD</general><general>BMJ Group</general><scope>BSCLL</scope><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>3V.</scope><scope>7X7</scope><scope>7XB</scope><scope>88A</scope><scope>88E</scope><scope>88I</scope><scope>8AF</scope><scope>8FE</scope><scope>8FH</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>AZQEC</scope><scope>BBNVY</scope><scope>BENPR</scope><scope>BHPHI</scope><scope>BTHHO</scope><scope>CCPQU</scope><scope>DWQXO</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>GNUQQ</scope><scope>HCIFZ</scope><scope>K9.</scope><scope>LK8</scope><scope>M0S</scope><scope>M1P</scope><scope>M2P</scope><scope>M7P</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PRINS</scope><scope>Q9U</scope><scope>7X8</scope><scope>5PM</scope></search><sort><creationdate>20030201</creationdate><title>The use of genotype-phenotype correlations in mutation analysis for the long QT syndrome</title><author>Van Langen, I M ; Birnie, E ; Alders, M ; Jongbloed, R J ; Le Marec, H ; Wilde, A A M</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-b649t-a72a1d78c304b1326476bc26744d9e69d48a8a97dabdbb36929e1c70dc8c15c3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2003</creationdate><topic>Age</topic><topic>Analysis</topic><topic>Biological and medical sciences</topic><topic>Cardiac dysrhythmias</topic><topic>Cardiology. Vascular system</topic><topic>Cardiomyopathy</topic><topic>Case studies</topic><topic>Cation Transport Proteins</topic><topic>Chromosomes</topic><topic>Diagnosis</topic><topic>DNA - chemistry</topic><topic>DNA - genetics</topic><topic>DNA diagnosis</topic><topic>DNA Mutational Analysis</topic><topic>DNA-Binding Proteins</topic><topic>Electrocardiography</topic><topic>ERG1 Potassium Channel</topic><topic>Ether-A-Go-Go Potassium Channels</topic><topic>Gene mutations</topic><topic>Genes</topic><topic>Genetic aspects</topic><topic>Genetic disorders</topic><topic>Genetic research</topic><topic>Genotype</topic><topic>Genotype & phenotype</topic><topic>genotype-phenotype correlations</topic><topic>Health aspects</topic><topic>Heart</topic><topic>Heart diseases</topic><topic>Humans</topic><topic>KCNQ Potassium Channels</topic><topic>KCNQ1 Potassium Channel</topic><topic>Letter to JMG</topic><topic>Long QT syndrome</topic><topic>Long QT Syndrome - genetics</topic><topic>Long QT Syndrome - pathology</topic><topic>Long QT Syndrome - 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| fulltext | fulltext |
| identifier | ISSN: 0022-2593 |
| ispartof | Journal of medical genetics, 2003-02, Vol.40 (2), p.141-145 |
| issn | 0022-2593 1468-6244 1468-6244 |
| language | eng |
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| source | MEDLINE; EZB-FREE-00999 freely available EZB journals; PubMed Central; Alma/SFX Local Collection |
| subjects | Age Analysis Biological and medical sciences Cardiac dysrhythmias Cardiology. Vascular system Cardiomyopathy Case studies Cation Transport Proteins Chromosomes Diagnosis DNA - chemistry DNA - genetics DNA diagnosis DNA Mutational Analysis DNA-Binding Proteins Electrocardiography ERG1 Potassium Channel Ether-A-Go-Go Potassium Channels Gene mutations Genes Genetic aspects Genetic disorders Genetic research Genotype Genotype & phenotype genotype-phenotype correlations Health aspects Heart Heart diseases Humans KCNQ Potassium Channels KCNQ1 Potassium Channel Letter to JMG Long QT syndrome Long QT Syndrome - genetics Long QT Syndrome - pathology Long QT Syndrome - physiopathology Medical genetics Medical sciences Methods Morphology Mutation NAV1.5 Voltage-Gated Sodium Channel Patients Phenotype Physiological aspects Polymorphism Potassium Channels - genetics Potassium Channels, Voltage-Gated Sodium Channels - genetics Trans-Activators Transcriptional Regulator ERG |
| title | The use of genotype-phenotype correlations in mutation analysis for the long QT syndrome |
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