EPG5 c.1007A > G mutation in a sibling pair with rapidly progressing Vici syndrome

dc.contributor.author	Vojcek, Eszter
dc.contributor.author	Keszthelyi, Tália Magdolna
dc.contributor.author	Jávorszky, Eszter
dc.contributor.author	Balogh, Lídia
dc.contributor.author	Tory, Kálmán
dc.date.accessioned	2020-10-21T13:14:16Z
dc.date.available	2020-10-21T13:14:16Z
dc.date.issued	2020
dc.identifier	85067657104
dc.identifier.citation	journalVolume=84;journalIssueNumber=1;journalTitle=ANNALS OF HUMAN GENETICS;pagerange=80-86;journalAbbreviatedTitle=ANN HUM GENET;
dc.identifier.uri	http://repo.lib.semmelweis.hu//handle/123456789/8262
dc.identifier.uri	doi:10.1111/ahg.12337
dc.format.extent	80-86
dc.relation.ispartof	urn:issn:0003-4800
dc.title	EPG5 c.1007A > G mutation in a sibling pair with rapidly progressing Vici syndrome
dc.type	Journal Article
dc.date.updated	2020-05-08T07:51:08Z
dc.language.rfc3066	en
dc.rights.holder	NULL
dc.identifier.mtmt	30710832
dc.identifier.pubmed	31184778
dc.contributor.department	SE/AOK/K/I. Sz. Gyermekgyógyászati Klinika
dc.contributor.department	SE/AOK/K/ISZGYK/MTA-SE Lendület Nephrogenetikai Kutatócsoport
dc.contributor.institution	Semmelweis Egyetem