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...

Descripción completa

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

Internet

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

Ejemplares similares