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Deep Intronic SERPING1 Gene Variants: Ending One Odyssey and Starting Another?

dc.creatorGermenis A.E., Vatsiou S., Csuka D., Zamanakou M., Farkas H.en
dc.date.accessioned2023-01-31T07:41:15Z
dc.date.available2023-01-31T07:41:15Z
dc.date.issued2021
dc.identifier10.1007/s10875-020-00887-3
dc.identifier.issn02719142
dc.identifier.urihttp://hdl.handle.net/11615/72220
dc.description.abstract[No abstract available]en
dc.language.isoenen
dc.sourceJournal of Clinical Immunologyen
dc.source.urihttps://www.scopus.com/inward/record.uri?eid=2-s2.0-85092389399&doi=10.1007%2fs10875-020-00887-3&partnerID=40&md5=78a81df80663c3d9ad0bd6b17eab065b
dc.subjectcomplement component C1s inhibitoren
dc.subjectcomplement component C1s inhibitoren
dc.subjectSERPING1 protein, humanen
dc.subjectadulten
dc.subjectangioneurotic edemaen
dc.subjectantisense therapyen
dc.subjectcase reporten
dc.subjectchilden
dc.subjectclinical articleen
dc.subjectcomplement component C1s inhibitor deficiencyen
dc.subjectcomplement deficiencyen
dc.subjectexonen
dc.subjectfemaleen
dc.subjectfirst-degree relativeen
dc.subjectgeneen
dc.subjectgenetic screeningen
dc.subjectgenetic variabilityen
dc.subjectgenotypeen
dc.subjecthigh throughput sequencingen
dc.subjecthumanen
dc.subjectintronen
dc.subjectlarynx edemaen
dc.subjectLetteren
dc.subjectmaleen
dc.subjectmissense mutationen
dc.subjectpathogenicityen
dc.subjectpreschool childen
dc.subjectpriority journalen
dc.subjectreal time polymerase chain reactionen
dc.subjectsequence analysisen
dc.subjectSERPING1 geneen
dc.subjectwhole exome sequencingen
dc.subjectyoung adulten
dc.subjectalleleen
dc.subjectangioneurotic edemaen
dc.subjectgenetic association studyen
dc.subjectgenetic predispositionen
dc.subjectgeneticsen
dc.subjectmutationen
dc.subjectpedigreeen
dc.subjectAdulten
dc.subjectAllelesen
dc.subjectAngioedemas, Hereditaryen
dc.subjectComplement C1 Inhibitor Proteinen
dc.subjectFemaleen
dc.subjectGenetic Association Studiesen
dc.subjectGenetic Predisposition to Diseaseen
dc.subjectGenotypeen
dc.subjectHigh-Throughput Nucleotide Sequencingen
dc.subjectHumansen
dc.subjectIntronsen
dc.subjectMaleen
dc.subjectMutationen
dc.subjectPedigreeen
dc.subjectSpringeren
dc.titleDeep Intronic SERPING1 Gene Variants: Ending One Odyssey and Starting Another?en
dc.typeotheren


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