Výsledky vyhledávání - "Filamin-A Variants"

Computational analysis of missense filamin-A variants, including the novel p.Arg484Gln variant of two brothers with periventricular nodular heterotopia

Autor: Umut Gerlevik, Ceren Saygı, Hakan Cangül, Aslı Kutlu, Erdal Fırat Çaralan, Yasemin Topçu, Nesrin Özören, Osman Uğur Sezerman

BackgroundPeriventricular nodular heterotopia (PNH) is a cell migration disorder associated with mutations in Filamin-A (FLNA) gene on chromosome X. Majority of the individuals with PNH-associatedFLNAmutations are female whereas liveborn males withFL

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4bf2df19b8f1c245c7f1d65d15e8d5a2
https://hdl.handle.net/20.500.12713/2788

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Filamin C variants are associated with a distinctive clinical and immunohistochemical arrhythmogenic cardiomyopathy phenotype

Autor: Hall CL, Akhtar MM, Sabater-Molina M, Futema M, Asimaki A, Protonotarios A, Dalageorgou C, Pittman AM, Suarez MP, Aguilera B, Molina P, Zorio E, Hernández JP, Pastor F, Gimeno JR, Syrris P, McKenna WJ

Publikováno v: INTERNATIONAL JOURNAL OF CARDIOLOGY
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
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Pathogenic variants in the filamin C (FLNC) gene are associated with inherited cardiomyopathies including dilated cardiomyopathy with an arrhythmogenic phenotype. We evaluated FLNC variants in arrhythmogenic cardiomyopathy (ACM) and investigated the

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=RECOLECTA___::0d0779fe6829a68132f9cb98df084141
https://fundanet.iislafe.san.gva.es/publicaciones/ProdCientif/PublicacionFrw.aspx?id=11419

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