Loading…
Five novel mutations in the C1 inhibitor gene (C1NH) leading to a premature stop codon in patients with type I hereditary angioedema: Mutations in Brief
Saved in:
Published in: | Human mutation 2002-04, Vol.19 (4), p.461-461 |
---|---|
Main Authors: | , , , , , |
Format: | Article |
Language: | English |
Online Access: | Get full text |
Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
cited_by | |
---|---|
cites | |
container_end_page | 461 |
container_issue | 4 |
container_start_page | 461 |
container_title | Human mutation |
container_volume | 19 |
creator | Freiberger, Tomáš Kolárová, Lenka Mejstrík, Pavel Vyskocilová, Martina Kuklínek, Pavel Litzman, Jirí |
description | |
doi_str_mv | 10.1002/humu.9029 |
format | article |
fullrecord | <record><control><sourceid>crossref</sourceid><recordid>TN_cdi_crossref_primary_10_1002_humu_9029</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sourcerecordid>10_1002_humu_9029</sourcerecordid><originalsourceid>FETCH-crossref_primary_10_1002_humu_90293</originalsourceid><addsrcrecordid>eNqVj71uwjAUhT1QCfoz9A3uWAbAhkaQOSqiSyd2y5BLfFHia9k3VOx98CZSX6DTOcP5jvQp9Wr00mi9Xvm-65elXpcTNTO6KBfbbfk-VY85X7XWu6LYzNTPnm4IgW_YQteLE-KQgQKIR6jM0DydSDhBgwHhrTJfhzm06GoKDQiDg5iwc9InhCwc4cw1h_EhDmcYJMM3iQe5R4RP8JiwJnHpDi40xFgP8LN6uLg248tfPqn5_uNYHRbnxDknvNiYqBsYa7Qd1eyoZke1zX-2v43lWUI</addsrcrecordid><sourcetype>Aggregation Database</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype></control><display><type>article</type><title>Five novel mutations in the C1 inhibitor gene (C1NH) leading to a premature stop codon in patients with type I hereditary angioedema: Mutations in Brief</title><source>Publicly Available Content Database (Proquest) (PQ_SDU_P3)</source><creator>Freiberger, Tomáš ; Kolárová, Lenka ; Mejstrík, Pavel ; Vyskocilová, Martina ; Kuklínek, Pavel ; Litzman, Jirí</creator><creatorcontrib>Freiberger, Tomáš ; Kolárová, Lenka ; Mejstrík, Pavel ; Vyskocilová, Martina ; Kuklínek, Pavel ; Litzman, Jirí</creatorcontrib><identifier>ISSN: 1059-7794</identifier><identifier>DOI: 10.1002/humu.9029</identifier><language>eng</language><ispartof>Human mutation, 2002-04, Vol.19 (4), p.461-461</ispartof><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,780,784,27924,27925</link.rule.ids></links><search><creatorcontrib>Freiberger, Tomáš</creatorcontrib><creatorcontrib>Kolárová, Lenka</creatorcontrib><creatorcontrib>Mejstrík, Pavel</creatorcontrib><creatorcontrib>Vyskocilová, Martina</creatorcontrib><creatorcontrib>Kuklínek, Pavel</creatorcontrib><creatorcontrib>Litzman, Jirí</creatorcontrib><title>Five novel mutations in the C1 inhibitor gene (C1NH) leading to a premature stop codon in patients with type I hereditary angioedema: Mutations in Brief</title><title>Human mutation</title><issn>1059-7794</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2002</creationdate><recordtype>article</recordtype><recordid>eNqVj71uwjAUhT1QCfoz9A3uWAbAhkaQOSqiSyd2y5BLfFHia9k3VOx98CZSX6DTOcP5jvQp9Wr00mi9Xvm-65elXpcTNTO6KBfbbfk-VY85X7XWu6LYzNTPnm4IgW_YQteLE-KQgQKIR6jM0DydSDhBgwHhrTJfhzm06GoKDQiDg5iwc9InhCwc4cw1h_EhDmcYJMM3iQe5R4RP8JiwJnHpDi40xFgP8LN6uLg248tfPqn5_uNYHRbnxDknvNiYqBsYa7Qd1eyoZke1zX-2v43lWUI</recordid><startdate>200204</startdate><enddate>200204</enddate><creator>Freiberger, Tomáš</creator><creator>Kolárová, Lenka</creator><creator>Mejstrík, Pavel</creator><creator>Vyskocilová, Martina</creator><creator>Kuklínek, Pavel</creator><creator>Litzman, Jirí</creator><scope>AAYXX</scope><scope>CITATION</scope></search><sort><creationdate>200204</creationdate><title>Five novel mutations in the C1 inhibitor gene (C1NH) leading to a premature stop codon in patients with type I hereditary angioedema</title><author>Freiberger, Tomáš ; Kolárová, Lenka ; Mejstrík, Pavel ; Vyskocilová, Martina ; Kuklínek, Pavel ; Litzman, Jirí</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-crossref_primary_10_1002_humu_90293</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2002</creationdate><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Freiberger, Tomáš</creatorcontrib><creatorcontrib>Kolárová, Lenka</creatorcontrib><creatorcontrib>Mejstrík, Pavel</creatorcontrib><creatorcontrib>Vyskocilová, Martina</creatorcontrib><creatorcontrib>Kuklínek, Pavel</creatorcontrib><creatorcontrib>Litzman, Jirí</creatorcontrib><collection>CrossRef</collection><jtitle>Human mutation</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Freiberger, Tomáš</au><au>Kolárová, Lenka</au><au>Mejstrík, Pavel</au><au>Vyskocilová, Martina</au><au>Kuklínek, Pavel</au><au>Litzman, Jirí</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Five novel mutations in the C1 inhibitor gene (C1NH) leading to a premature stop codon in patients with type I hereditary angioedema: Mutations in Brief</atitle><jtitle>Human mutation</jtitle><date>2002-04</date><risdate>2002</risdate><volume>19</volume><issue>4</issue><spage>461</spage><epage>461</epage><pages>461-461</pages><issn>1059-7794</issn><doi>10.1002/humu.9029</doi></addata></record> |
fulltext | fulltext |
identifier | ISSN: 1059-7794 |
ispartof | Human mutation, 2002-04, Vol.19 (4), p.461-461 |
issn | 1059-7794 |
language | eng |
recordid | cdi_crossref_primary_10_1002_humu_9029 |
source | Publicly Available Content Database (Proquest) (PQ_SDU_P3) |
title | Five novel mutations in the C1 inhibitor gene (C1NH) leading to a premature stop codon in patients with type I hereditary angioedema: Mutations in Brief |
url | http://sfxeu10.hosted.exlibrisgroup.com/loughborough?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2024-12-29T05%3A25%3A09IST&url_ver=Z39.88-2004&url_ctx_fmt=infofi/fmt:kev:mtx:ctx&rfr_id=info:sid/primo.exlibrisgroup.com:primo3-Article-crossref&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.genre=article&rft.atitle=Five%20novel%20mutations%20in%20the%20C1%20inhibitor%20gene%20(C1NH)%20leading%20to%20a%20premature%20stop%20codon%20in%20patients%20with%20type%20I%20hereditary%20angioedema:%20Mutations%20in%20Brief&rft.jtitle=Human%20mutation&rft.au=Freiberger,%20Tom%C3%A1%C5%A1&rft.date=2002-04&rft.volume=19&rft.issue=4&rft.spage=461&rft.epage=461&rft.pages=461-461&rft.issn=1059-7794&rft_id=info:doi/10.1002/humu.9029&rft_dat=%3Ccrossref%3E10_1002_humu_9029%3C/crossref%3E%3Cgrp_id%3Ecdi_FETCH-crossref_primary_10_1002_humu_90293%3C/grp_id%3E%3Coa%3E%3C/oa%3E%3Curl%3E%3C/url%3E&rft_id=info:oai/&rft_id=info:pmid/&rfr_iscdi=true |