Screening of family members of children with Familial Mediterranean Fever: True - autosomal and pseudo - autosomal inheritance

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dc.authorscopusid56248481600
dc.authorscopusid9743449900
dc.authorscopusid6701831814
dc.authorscopusid36847924600
dc.contributor.authorÇa?lar, Musa Kazim
dc.contributor.authorAltugan, Fatma Şemsa
dc.contributor.authorÖzyurt, Hüseyin
dc.contributor.authorAtasoy, Halil Ibrahim
dc.date.accessioned2024-09-25T19:45:15Z
dc.date.available2024-09-25T19:45:15Z
dc.date.issued2008
dc.departmentAbant İzzet Baysal Üniversitesien_US
dc.description.abstractObjectives: Screening of family members of children with Familial Mediterranean Fever (FMF) has been carried out to detect new potential patients and to analyze the type of inheritance other than autosomal recessive. Methods: Marenostrin encoding fever gene mutational analysis has been performed in 83 subjects - including 19 newly diagnosed children with FMF and their family members. Results: Fourteen additional patients with FMF were diagnosed by screening family members. Pseudo-dominant and true dominant inheritances were detected in two families respectively, while the rest of the patients exhibited autosomal recessive mode of inheritance. Conclusion: Screening the family members of newly diagnosed FMF patients provides the opportunity to reveal undiagnosed new cases and to understand the mode of inheritance.en_US
dc.identifier.endpage420en_US
dc.identifier.issn0303-464X
dc.identifier.issue4en_US
dc.identifier.pmid19107086en_US
dc.identifier.scopus2-s2.0-59649130135en_US
dc.identifier.scopusqualityQ3en_US
dc.identifier.startpage415en_US
dc.identifier.urihttps://hdl.handle.net/20.500.12491/12925
dc.identifier.volume33en_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isopten_US
dc.relation.ispartofActa Reumatologica Portuguesaen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.snmzYK_20240925en_US
dc.subjectFamilial mediterranean feveren_US
dc.subjectInheritanceen_US
dc.subjectMarenostrin encoding fever geneen_US
dc.subjectMutationen_US
dc.subjectScreeningen_US
dc.titleScreening of family members of children with Familial Mediterranean Fever: True - autosomal and pseudo - autosomal inheritanceen_US
dc.title.alternativeRastreio dos membros da família de crianças com Febre Mediterrânica Familiar: Transmissão autossómica verdadeira e pseudo-autossómica]en_US
dc.typeArticleen_US

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