Discovery
Discovered by accident, the mutation was found to be present in about 3.5% of the population of Limone sul Garda, a small village in northern Italy. It has been traced to a mutation in a single man, Giovanni Pomarelli, who lived in the village in the 18th century and passed it on to his offspring.
It is characterized by the replacement of a single amino acid at R173C.
Read more about this topic: Apo A-1 Milano
Famous quotes containing the word discovery:
“It was one of those evenings when men feel that truth, goodness and beauty are one. In the morning, when they commit their discovery to paper, when others read it written there, it looks wholly ridiculous.”
—Aldous Huxley (1894–1963)
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—George Berkeley (1685–1753)
“We early arrive at the great discovery that there is one mind common to all individual men: that what is individual is less than what is universal ... that error, vice and disease have their seat in the superficial or individual nature.”
—Ralph Waldo Emerson (1803–1882)