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Rare mutations in the gene are associated with Brunner syndrome.
Mutation in this gene results in monoamine oxidase deficiency, or Brunner syndrome.
Brunner syndrome is hypothesized as a rare genetic disorder caused by a mutation in the MAOA gene.
Evidence that supports the genetic defense stems includes H.G. Brunner's 1993 discovery of what is now known as Brunner Syndrome, and a series of studies on mice.
Several different versions of the gene are found in different individuals, although a functional gene is present in most humans (with the exception of a few individuals with Brunner syndrome).
Brunner Syndrome was described in 1993 by H.G. Brunner et al upon the discovery of a particular genetic defect in male members of a large Dutch family.
Brunner syndrome is caused by a monoamine oxidase A (MAOA) deficiency, which leads to an excess of monoamines in the brain, such as serotonin, dopamine, and norepinephrine (noradrenaline).