Loading…

Characterization of ATM mutations in 41 Nordic families with ataxia telangiectasia

Saved in:
Bibliographic Details
Published in:Human mutation 2000, Vol.16 (3), p.232
Main Authors: Laake, K, Jansen, L, Hahnemann, JM, Brondum-Nielsen, K, Lonnqvist, T, Kaariainen, H, Sankila, R, Lahdesmaki, A, Hammarstrom, L, Yuen, J, Tretli, S, Heiberg, A, Olsen, JH, Tucker, M, Kleinerman, R, Borresen-Dale, AL
Format: Article
Language:English
Subjects:
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
cited_by
cites
container_end_page
container_issue 3
container_start_page 232
container_title Human mutation
container_volume 16
creator Laake, K
Jansen, L
Hahnemann, JM
Brondum-Nielsen, K
Lonnqvist, T
Kaariainen, H
Sankila, R
Lahdesmaki, A
Hammarstrom, L
Yuen, J
Tretli, S
Heiberg, A
Olsen, JH
Tucker, M
Kleinerman, R
Borresen-Dale, AL
description
doi_str_mv 10.1002/1098-1004(200009)16:3<232::AID-HUMU6>3.0.CO
format article
fullrecord <record><control><sourceid>swepub</sourceid><recordid>TN_cdi_swepub_primary_oai_swepub_ki_se_600658</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sourcerecordid>oai_prod_swepub_kib_ki_se_1959189</sourcerecordid><originalsourceid>FETCH-LOGICAL-s868-a1b26392fbb633e8a05ac3572d7916d795d123031cfdb0dfaf8823d2ba0580033</originalsourceid><addsrcrecordid>eNp1jE1PAjEQhnvQRET_Q496WGw7bGmJMSHrByQgiYHzZnbbShV2yXYJ6q-3UdSTc5h5Z_I8Qwhw1uOMiSvOtEpi6l8IFktfcjmEawFiOBxNbpPxcraUN9BjvWx-RDq_9Ak5DeElCipNoUOeshU2WLa28R_Y-rqitaOjxYxudu3XHqivaJ_Tx7oxvqQON37tbaB7364otvjmkbZ2jdWzt2WLweMZOXa4Dvb8MLtkcX-3yMbJdP4wyUbTJCipEuSFkKCFKwoJYBWyFEtIB8IMNJexpYYLYMBLZwpmHDqlBBhRRFAxBtAlyffbsLfbXZFvG7_B5j2v0eeH02tMNpeMyVRFfvAvv21q8yf9iFynmisNn5D2bk8</addsrcrecordid><sourcetype>Open Access Repository</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype></control><display><type>article</type><title>Characterization of ATM mutations in 41 Nordic families with ataxia telangiectasia</title><source>Publicly Available Content (ProQuest)</source><creator>Laake, K ; Jansen, L ; Hahnemann, JM ; Brondum-Nielsen, K ; Lonnqvist, T ; Kaariainen, H ; Sankila, R ; Lahdesmaki, A ; Hammarstrom, L ; Yuen, J ; Tretli, S ; Heiberg, A ; Olsen, JH ; Tucker, M ; Kleinerman, R ; Borresen-Dale, AL</creator><creatorcontrib>Laake, K ; Jansen, L ; Hahnemann, JM ; Brondum-Nielsen, K ; Lonnqvist, T ; Kaariainen, H ; Sankila, R ; Lahdesmaki, A ; Hammarstrom, L ; Yuen, J ; Tretli, S ; Heiberg, A ; Olsen, JH ; Tucker, M ; Kleinerman, R ; Borresen-Dale, AL</creatorcontrib><identifier>ISSN: 1098-1004</identifier><identifier>ISSN: 1059-7794</identifier><identifier>DOI: 10.1002/1098-1004(200009)16:3&lt;232::AID-HUMU6&gt;3.0.CO</identifier><language>eng</language><subject>Medicin och hälsovetenskap</subject><ispartof>Human mutation, 2000, Vol.16 (3), p.232</ispartof><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>230,314,780,784,885,4024,27923,27924,27925</link.rule.ids><backlink>$$Uhttp://kipublications.ki.se/Default.aspx?queryparsed=id:1959189$$DView record from Swedish Publication Index$$Hfree_for_read</backlink></links><search><creatorcontrib>Laake, K</creatorcontrib><creatorcontrib>Jansen, L</creatorcontrib><creatorcontrib>Hahnemann, JM</creatorcontrib><creatorcontrib>Brondum-Nielsen, K</creatorcontrib><creatorcontrib>Lonnqvist, T</creatorcontrib><creatorcontrib>Kaariainen, H</creatorcontrib><creatorcontrib>Sankila, R</creatorcontrib><creatorcontrib>Lahdesmaki, A</creatorcontrib><creatorcontrib>Hammarstrom, L</creatorcontrib><creatorcontrib>Yuen, J</creatorcontrib><creatorcontrib>Tretli, S</creatorcontrib><creatorcontrib>Heiberg, A</creatorcontrib><creatorcontrib>Olsen, JH</creatorcontrib><creatorcontrib>Tucker, M</creatorcontrib><creatorcontrib>Kleinerman, R</creatorcontrib><creatorcontrib>Borresen-Dale, AL</creatorcontrib><title>Characterization of ATM mutations in 41 Nordic families with ataxia telangiectasia</title><title>Human mutation</title><subject>Medicin och hälsovetenskap</subject><issn>1098-1004</issn><issn>1059-7794</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2000</creationdate><recordtype>article</recordtype><recordid>eNp1jE1PAjEQhnvQRET_Q496WGw7bGmJMSHrByQgiYHzZnbbShV2yXYJ6q-3UdSTc5h5Z_I8Qwhw1uOMiSvOtEpi6l8IFktfcjmEawFiOBxNbpPxcraUN9BjvWx-RDq_9Ak5DeElCipNoUOeshU2WLa28R_Y-rqitaOjxYxudu3XHqivaJ_Tx7oxvqQON37tbaB7364otvjmkbZ2jdWzt2WLweMZOXa4Dvb8MLtkcX-3yMbJdP4wyUbTJCipEuSFkKCFKwoJYBWyFEtIB8IMNJexpYYLYMBLZwpmHDqlBBhRRFAxBtAlyffbsLfbXZFvG7_B5j2v0eeH02tMNpeMyVRFfvAvv21q8yf9iFynmisNn5D2bk8</recordid><startdate>2000</startdate><enddate>2000</enddate><creator>Laake, K</creator><creator>Jansen, L</creator><creator>Hahnemann, JM</creator><creator>Brondum-Nielsen, K</creator><creator>Lonnqvist, T</creator><creator>Kaariainen, H</creator><creator>Sankila, R</creator><creator>Lahdesmaki, A</creator><creator>Hammarstrom, L</creator><creator>Yuen, J</creator><creator>Tretli, S</creator><creator>Heiberg, A</creator><creator>Olsen, JH</creator><creator>Tucker, M</creator><creator>Kleinerman, R</creator><creator>Borresen-Dale, AL</creator><scope>ADTPV</scope><scope>AOWAS</scope><scope>D8T</scope><scope>ZZAVC</scope></search><sort><creationdate>2000</creationdate><title>Characterization of ATM mutations in 41 Nordic families with ataxia telangiectasia</title><author>Laake, K ; Jansen, L ; Hahnemann, JM ; Brondum-Nielsen, K ; Lonnqvist, T ; Kaariainen, H ; Sankila, R ; Lahdesmaki, A ; Hammarstrom, L ; Yuen, J ; Tretli, S ; Heiberg, A ; Olsen, JH ; Tucker, M ; Kleinerman, R ; Borresen-Dale, AL</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-s868-a1b26392fbb633e8a05ac3572d7916d795d123031cfdb0dfaf8823d2ba0580033</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2000</creationdate><topic>Medicin och hälsovetenskap</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Laake, K</creatorcontrib><creatorcontrib>Jansen, L</creatorcontrib><creatorcontrib>Hahnemann, JM</creatorcontrib><creatorcontrib>Brondum-Nielsen, K</creatorcontrib><creatorcontrib>Lonnqvist, T</creatorcontrib><creatorcontrib>Kaariainen, H</creatorcontrib><creatorcontrib>Sankila, R</creatorcontrib><creatorcontrib>Lahdesmaki, A</creatorcontrib><creatorcontrib>Hammarstrom, L</creatorcontrib><creatorcontrib>Yuen, J</creatorcontrib><creatorcontrib>Tretli, S</creatorcontrib><creatorcontrib>Heiberg, A</creatorcontrib><creatorcontrib>Olsen, JH</creatorcontrib><creatorcontrib>Tucker, M</creatorcontrib><creatorcontrib>Kleinerman, R</creatorcontrib><creatorcontrib>Borresen-Dale, AL</creatorcontrib><collection>SwePub</collection><collection>SwePub Articles</collection><collection>SWEPUB Freely available online</collection><collection>SwePub Articles full text</collection><jtitle>Human mutation</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Laake, K</au><au>Jansen, L</au><au>Hahnemann, JM</au><au>Brondum-Nielsen, K</au><au>Lonnqvist, T</au><au>Kaariainen, H</au><au>Sankila, R</au><au>Lahdesmaki, A</au><au>Hammarstrom, L</au><au>Yuen, J</au><au>Tretli, S</au><au>Heiberg, A</au><au>Olsen, JH</au><au>Tucker, M</au><au>Kleinerman, R</au><au>Borresen-Dale, AL</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Characterization of ATM mutations in 41 Nordic families with ataxia telangiectasia</atitle><jtitle>Human mutation</jtitle><date>2000</date><risdate>2000</risdate><volume>16</volume><issue>3</issue><spage>232</spage><pages>232-</pages><issn>1098-1004</issn><issn>1059-7794</issn><doi>10.1002/1098-1004(200009)16:3&lt;232::AID-HUMU6&gt;3.0.CO</doi><oa>free_for_read</oa></addata></record>
fulltext fulltext
identifier ISSN: 1098-1004
ispartof Human mutation, 2000, Vol.16 (3), p.232
issn 1098-1004
1059-7794
language eng
recordid cdi_swepub_primary_oai_swepub_ki_se_600658
source Publicly Available Content (ProQuest)
subjects Medicin och hälsovetenskap
title Characterization of ATM mutations in 41 Nordic families with ataxia telangiectasia
url http://sfxeu10.hosted.exlibrisgroup.com/loughborough?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2025-01-08T01%3A03%3A12IST&url_ver=Z39.88-2004&url_ctx_fmt=infofi/fmt:kev:mtx:ctx&rfr_id=info:sid/primo.exlibrisgroup.com:primo3-Article-swepub&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.genre=article&rft.atitle=Characterization%20of%20ATM%20mutations%20in%2041%20Nordic%20families%20with%20ataxia%20telangiectasia&rft.jtitle=Human%20mutation&rft.au=Laake,%20K&rft.date=2000&rft.volume=16&rft.issue=3&rft.spage=232&rft.pages=232-&rft.issn=1098-1004&rft_id=info:doi/10.1002/1098-1004(200009)16:3%3C232::AID-HUMU6%3E3.0.CO&rft_dat=%3Cswepub%3Eoai_prod_swepub_kib_ki_se_1959189%3C/swepub%3E%3Cgrp_id%3Ecdi_FETCH-LOGICAL-s868-a1b26392fbb633e8a05ac3572d7916d795d123031cfdb0dfaf8823d2ba0580033%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