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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Bibliographic Details
Main Authors: 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: Online
Language:English
Published: Public Library of Science 2016
Online Access:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4790936/

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https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4790936/

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