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Adult male patient with severe intellectual disability caused by a homozygous mutation in the HNMT gene
Histamine is involved in various physiological functions like sleep–wake cycle and stress regulation. The histamine N-methyltransferase (HNMT) enzyme is the only pathway for termination of histamine neurotransmission in the central nervous system. Experiments with HNMT knockout mice generated aggres...
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| Publicado no: | BMJ Case Rep |
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| Main Authors: | , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BMJ Publishing Group
2020
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7735107/ https://ncbi.nlm.nih.gov/pubmed/33310825 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/bcr-2020-235972 |
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