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...
| প্রধান লেখক: | , , , , , , , , , , |
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| বিন্যাস: | প্রবন্ধ |
| ভাষা: | English |
| প্রকাশিত: |
Public Library of Science (PLoS)
2016-01-01
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| মালা: | PLoS ONE |
| অনলাইন ব্যবহার করুন: | https://journals.plos.org/plosone/article/file?id=10.1371/journal.pone.0151261&type=printable |