Variation in a repeat sequence determines wheter a common variant of the cystic fibrosis transmembrane conductance regulator gene is pathogenic or benign

dc.contributor.author	Groman JD
dc.contributor.author	Hefferon TW
dc.contributor.author	Casals T
dc.contributor.author	Bassas L
dc.contributor.author	Estivill X
dc.contributor.author	Des Georges M
dc.contributor.author	Koudova M
dc.contributor.author	Fallin MD
dc.contributor.author	Németh, Krisztina
dc.contributor.author	Fekete, György
dc.contributor.author	Kádasi, Lajos
dc.contributor.author	Friedman K
dc.contributor.author	Schwarz M
dc.contributor.author	Bombieri C
dc.contributor.author	Pignatti GF
dc.contributor.author	Kanavakis E
dc.contributor.author	Tzetis M
dc.contributor.author	Schwartz M
dc.contributor.author	Novelli G
dc.contributor.author	D Apice MR
dc.contributor.author	Sobczynska-Tomaszewska A
dc.contributor.author	Bal J
dc.contributor.author	Stuhrmann M
dc.contributor.author	Macek M Jr
dc.contributor.author	Claustres M
dc.contributor.author	Cutting GR
dc.date.accessioned	2019-01-09T14:16:39Z
dc.date.available	2019-01-09T14:16:39Z
dc.date.issued	2004
dc.identifier	9144235448
dc.identifier.citation	pagination=176-179; journalVolume=74; journalIssueNumber=1; journalTitle=AMERICAN JOURNAL OF HUMAN GENETICS;
dc.identifier.uri	http://repo.lib.semmelweis.hu//handle/123456789/4851
dc.identifier.uri	doi:10.1086/381001
dc.relation.ispartof	urn:issn:0002-9297
dc.title	Variation in a repeat sequence determines wheter a common variant of the cystic fibrosis transmembrane conductance regulator gene is pathogenic or benign
dc.type	Journal Article
dc.date.updated	2018-02-19T13:37:20Z
dc.language.rfc3066	en
dc.identifier.mtmt	1257489
dc.identifier.wos	000187723500017
dc.identifier.pubmed	14685937
dc.contributor.department	SE/AOK/K/II. Sz. Gyermekgyógyászati Klinika
dc.contributor.institution	Semmelweis Egyetem