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Some gene mutations result in so much extra production of a given protein that the body's removal system is overwhelmed.
Rather, these mutations result in some organisms' being better adapted to their environment than others.
SDHB and SDHD mutations result in paraganglioma formation.
Very rarely do SDHC mutations result in pheochromocytoma formation.
The exact pathogenetic mechanism whereby the subunit mutations result in paraganglioma formation is not known [5].
Do we know what mutations result in a given percentage of harm to an organism?
We hypothesized that different RPGR mutations result in distinct RP phenotypes.
However, how such mutations result in the formation of cysts is still unclear.
On the cellular level, these mutations result in defects in the synthesis and/or secretion of leptin.
Mutations in SCN1A are associated with a spectrum of epilepsy syndromes [14]; a few mutations result in FHM [15].
These neomorphic mutations result in the gained function of converting α-KG to 2-hydroxyglutarate (2-HG), an oncometabolite.
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