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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...
Autores principales: | Verhoeven, Willem M A, Egger, Jos I M, Janssen, Paddy K C, van Haeringen, Arie |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BMJ Publishing Group
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7735107/ https://www.ncbi.nlm.nih.gov/pubmed/33310825 http://dx.doi.org/10.1136/bcr-2020-235972 |
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