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Exome Sequencing Identifies a Novel FBN1 Variant in a Pakistani Family with Marfan Syndrome That Includes Left Ventricle Diastolic Dysfunction

dc.contributor.authorFarooqi, Nen_US
dc.contributor.authorMetherell, LAen_US
dc.contributor.authorSchrauwen, Ien_US
dc.contributor.authorAcharya, Aen_US
dc.contributor.authorKhan, Qen_US
dc.contributor.authorNouel Saied, LMen_US
dc.contributor.authorAli, Yen_US
dc.contributor.authorEl-Serehy, HAen_US
dc.contributor.authorJalil, Fen_US
dc.contributor.authorLeal, SMen_US
dc.date.accessioned2021-12-14T15:29:22Z
dc.date.available2021-09-18en_US
dc.date.issued2021en_US
dc.identifier.otherARTN 1915en_US
dc.identifier.otherARTN 1915en_US
dc.identifier.otherARTN 1915en_US
dc.identifier.otherARTN 1915en_US
dc.identifier.urihttps://qmro.qmul.ac.uk/xmlui/handle/123456789/75753
dc.relation.ispartofGENESen_US
dc.rightsAttribution 3.0 United States*
dc.rights.urihttp://creativecommons.org/licenses/by/3.0/us/*
dc.subjectcardiovascular diseasesen_US
dc.subjectdilated cardiomyopathyen_US
dc.subjectMarfan syndromeen_US
dc.subjectleft ventricular diastolic dysfunctionen_US
dc.subjectwhole exome sequencingen_US
dc.titleExome Sequencing Identifies a Novel FBN1 Variant in a Pakistani Family with Marfan Syndrome That Includes Left Ventricle Diastolic Dysfunctionen_US
dc.typeArticle
dc.identifier.doi10.3390/genes12121915en_US
pubs.author-urlhttps://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000743909300001&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=612ae0d773dcbdba3046f6df545e9f6aen_US
pubs.issue12en_US
pubs.notesNot knownen_US
pubs.publication-statusPublisheden_US
pubs.volume12en_US
qmul.funderAntioxidant defence in adrenocortical cells::MRCen_US


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Attribution 3.0 United States
Except where otherwise noted, this item's license is described as Attribution 3.0 United States