LMNA Sequences of 60,706 Unrelated Individuals Reveal 132 Novel Missense Variants in A-Type Lamins and Suggest a Link between Variant p.G602S and Type 2 Diabetes

Mutations in LMNA, encoding nuclear intermediate filament proteins lamins A and C, cause multiple diseases (‘laminopathies’) including muscular dystrophy, dilated cardiomyopathy, familial partial lipodystrophy (FPLD2), insulin resistance syndrome and progeria. To assess the prevalence of LMNA missen...

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Detalles Bibliográficos
Autores principales: Florwick, Alyssa, Dharmaraj, Tejas, Jurgens, Julie, Valle, David, Wilson, Katherine L.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2017
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5471320/
https://www.ncbi.nlm.nih.gov/pubmed/28663758
http://dx.doi.org/10.3389/fgene.2017.00079

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5471320/
https://www.ncbi.nlm.nih.gov/pubmed/28663758
http://dx.doi.org/10.3389/fgene.2017.00079

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