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While cloning the human IRF-5 gene from a T cell cDNA library, we found a G202C missense mutation that resulted in an Ala 68 Pro mutated form of IRF-5 (referred to as IRF-5P68).
Those giraffes born with a genetic mutation that resulted in longer necks were better suited to their environments and survived to reproduce.
Northern Europe has fewer hours of sunlight compared with Africa, so the theory is that tribes migrating into Europe underwent a genetic mutation that resulted in the depigmentation of skin and hair.2 Sexual selection would certainly have been a powerful driving force behind evolution in northern Europeans.
The researchers report in this week's issue of Nature that the leptin genes in each child were missing a nucleotide, a mutation that resulted in shortened, malfunctioning leptin molecules.
In individuals from the second family, DNA sequencing of MASP1 showed a nonsense mutation that resulted in a deactivation of tryptophan at position 290 in the gene, that also cosegregated with the phenotype.
The breeding scheme to produce a segregating mouse population was set up to enable both the identification of QTL, as well as to allow for the mapping of a chemically-induced unknown mutation that resulted in a greater amount of wakefulness (referred to as the Sleepless mutation) on a C57BL/6J (backgroundound.
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We also designed an experimental procedure using a mutated GFP gene containing a frameshift mutation that results in a loss of GFP expression.
William was born with a genetic mutation that results in achondroplasia, a kind of dwarfism.
Any mutation that results in a lack of function for a particular gene is called a "null" mutation.
A common RNASEL variant involves a mutation that results in decreased activity of the encoded ribonuclease L protein, thereby reducing immune defense against viruses.
One genetic difference that will be of interest to medical researchers is a mutation that results in dementia in humans, but seems to leave gorillas completely unaffected.
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