Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
This gene encodes one of two important enzymes metabolizing histamin, so it is not surprising that genetic alterations are associated with allergic diseases. Also, an association with hitamin intolerance is postulated.
| Clinic | Method | Carrier testing |
| Turnaround | 5 days | |
| Specimen type | genomic DNA |
| Clinic | Method | Massive parallel sequencing |
| Turnaround | 25 days | |
| Specimen type | genomic DNA |
| Clinic | Method | Genomic sequencing of the entire coding region |
| Turnaround | 25 days | |
| Specimen type | genomic DNA |
| Clinic | Method | Target mutation analysis |
| Turnaround | 20 days | |
| Specimen type | genomic DNA |
| 1. |
Sasaki Y et al. (2000) Lack of association between atopic asthma and polymorphisms of the histamine H1 receptor, histamine H2 receptor, and histamine N-methyltransferase genes. 
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| 2. |
Yan L et al. (2000) Histamine N-methyltransferase pharmacogenetics: association of a common functional polymorphism with asthma.
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| 3. |
Barnes WG et al. (2004) Characterization of a new mRNA species from the human histamine N-methyltransferase gene.
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| 4. |
Sharma S et al. (2005) Lack of association of histamine-N-methyltransferase (HNMT) polymorphisms with asthma in the Indian population.
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| 5. |
Yamauchi K et al. (1994) Structure and function of human histamine N-methyltransferase: critical enzyme in histamine metabolism in airway.
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| 6. |
Price RA et al. (1993) Genetic segregation analysis of red blood cell (RBC) histamine N-methyltransferase (HNMT) activity.
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| 7. |
Aksoy S et al. (1996) Human histamine N-methyltransferase gene: structural characterization and chromosomal location.
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| 8. |
Preuss CV et al. (1998) Human histamine N-methyltransferase pharmacogenetics: common genetic polymorphisms that alter activity.
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| 9. |
OMIM.ORG article Omim 605238
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| 10. |
Orphanet article Orphanet ID 448453
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| 11. |
NCBI article NCBI 3176
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| 12. |
Wikipedia article Wikipedia EN (Histamine_N-methyltransferase)
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