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Rare BANF1 Alleles and Relatively Frequent EMD Alleles Including ‘Healthy Lipid’ Emerin p.D149H in the ExAC Cohort

Emerin (EMD) and barrier to autointegration factor 1 (BANF1) each bind A-type lamins (LMNA) as fundamental components of nuclear lamina structure. Mutations in LMNA, EMD and BANF1 are genetically linked to many tissue-specific disorders including Emery-Dreifuss muscular dystrophy and cardiomyopathy...

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Detalles Bibliográficos
Autores principales:	Dharmaraj, Tejas, Guan, Youchen, Liu, Julie, Badens, Catherine, Gaborit, Benedicte, Wilson, Katherine L.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2019
Materias:	Cell and Developmental Biology
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6459885/ https://www.ncbi.nlm.nih.gov/pubmed/31024910 http://dx.doi.org/10.3389/fcell.2019.00048

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