Abnormal Hypermethylation at Imprinting Control Regions in Patients with S-Adenosylhomocysteine Hydrolase (AHCY) Deficiency

S-adenosylhomocysteine hydrolase (AHCY) deficiency is a rare autosomal recessive disorder in methionine metabolism caused by mutations in the AHCY gene. Main characteristics are psychomotor delay including delayed myelination and myopathy (hypotonia, absent tendon reflexes etc.) from birth, mostly a...

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Veröffentlicht in:PLoS One
Hauptverfasser: Motzek, Antje, Knežević, Jelena, Switzeny, Olivier J., Cooper, Alexis, Barić, Ivo, Beluzić, Robert, Strauss, Kevin A., Puffenberger, Erik G., Mudd, S. Harvey, Vugrek, Oliver, Zechner, Ulrich
Format: Artigo
Sprache:Inglês
Veröffentlicht: Public Library of Science 2016
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Research Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4790936/
https://ncbi.nlm.nih.gov/pubmed/26974671
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0151261
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