The mutation‐dependent pathogenicity of NPHS2 p.R229Q

dc.contributor.author	Mikó, Ágnes
dc.contributor.author	Karancsiné Menyhárd, Dóra
dc.contributor.author	Kaposi, Ambrus
dc.contributor.author	Corinne Antignac
dc.contributor.author	Tory, Kálmán
dc.date.accessioned	2019-08-27T06:54:57Z
dc.date.available	2019-08-27T06:54:57Z
dc.date.issued	2018
dc.identifier.citation	journalVolume=39;journalIssueNumber=12;journalTitle=HUMAN MUTATION;pagerange=1854-1860;journalAbbreviatedTitle=HUM MUTAT;
dc.identifier.uri	http://repo.lib.semmelweis.hu//handle/123456789/6746
dc.identifier.uri	doi:10.1002/humu.23660
dc.format.extent	1854-1860
dc.relation.ispartof	urn:issn:1059-7794
dc.title	The mutation‐dependent pathogenicity of NPHS2 p.R229Q
dc.type	Journal Article
dc.date.updated	2019-02-08T08:42:43Z
dc.language.rfc3066	en
dc.rights.holder	NULL
dc.identifier.mtmt	3427246
dc.identifier.wos	000451194400010
dc.identifier.pubmed	30260545
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