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...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:PLoS One
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
Formato: Artigo
Idioma:Inglês
Publicado em: Public Library of Science 2016
Assuntos:
Research Article
Acesso em linha: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
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados