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Article

Increase in DNA methylation in patients with amyotrophic lateral sclerosis carriers of not fully penetrant SOD1 mutations.

Amyotrophic lateral sclerosis & frontotemporal degeneration - 1 Feb 2018

Coppedè Fabio, Stoccoro Andrea, Mosca Lorena, Gallo Roberta, Tarlarini Claudia, Lunetta Christian, Marocchi Alessandro, Migliore Lucia, Penco Silvana

Abstract excerpt

OBJECTIVE: More than 180 different superoxide dismutase 1 (SOD1) mutations have been described to date in amyotrophic lateral sclerosis (ALS) patients, including not completely penetrant ones leading to phenotypic heterogeneity among carriers. We collected DNA samples from five ALS families with not fully penetrant SOD1 mutations (p.Asn65Ser, p.Gly72Ser, p.Gly93Asp, and p.Gly130_Glu133del) searching for...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 28859526
DOI: 10.1080/21678421.2017.1367401

Genes

SOD1
FUS
TARDBP

Variants

Provenance

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