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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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2016
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4790936/
https://www.ncbi.nlm.nih.gov/pubmed/26974671
http://dx.doi.org/10.1371/journal.pone.0151261

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4790936/
https://www.ncbi.nlm.nih.gov/pubmed/26974671
http://dx.doi.org/10.1371/journal.pone.0151261

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