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

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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Bibliografiske detaljer
Main Authors: Antje Motzek, Jelena Knežević, Olivier J Switzeny, Alexis Cooper, Ivo Barić, Robert Beluzić, Kevin A Strauss, Erik G Puffenberger, S Harvey Mudd, Oliver Vugrek, Ulrich Zechner
Format: Article
Sprog:English
Udgivet: Public Library of Science (PLoS) 2016-01-01
Serier:PLoS ONE
Online adgang:https://journals.plos.org/plosone/article/file?id=10.1371/journal.pone.0151261&type=printable

Internet

https://journals.plos.org/plosone/article/file?id=10.1371/journal.pone.0151261&type=printable

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