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...
| मुख्य लेखकों: | , , , , , , , , , , |
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| स्वरूप: | लेख |
| भाषा: | English |
| प्रकाशित: |
Public Library of Science (PLoS)
2016-01-01
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| श्रृंखला: | PLoS ONE |
| ऑनलाइन पहुंच: | https://journals.plos.org/plosone/article/file?id=10.1371/journal.pone.0151261&type=printable |