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

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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Bibliographic Details
Main Authors: Alyssa Florwick, Tejas Dharmaraj, Julie Jurgens, David Valle, Katherine L. Wilson
Format: Article
Language:English
Published: Frontiers Media S.A. 2017-06-01
Series:Frontiers in Genetics
Subjects:
ExAC
dilated cardiomyopathy
progeria
type 2 diabetes
FPLD2
metabolic syndrome
Online Access:http://journal.frontiersin.org/article/10.3389/fgene.2017.00079/full

Internet

http://journal.frontiersin.org/article/10.3389/fgene.2017.00079/full

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