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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Egile Nagusiak: 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
Formatua: Artikulua
Hizkuntza:English
Argitaratua: Public Library of Science (PLoS) 2016-01-01
Saila:PLoS ONE
Sarrera elektronikoa: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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