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)
“Your discovery of the contradiction caused me the greatest surprise and, I would almost say, consternation, since it has shaken the basis on which I intended to build my arithmetic.... It is all the more serious since, with the loss of my rule V, not only the foundations of my arithmetic, but also the sole possible foundations of arithmetic seem to vanish.”
—Gottlob Frege (1848–1925)
“One of the laudable by-products of the Freudian quackery is the discovery that lying, in most cases, is involuntary and inevitable—that the liar can no more avoid it than he can avoid blinking his eyes when a light flashes or jumping when a bomb goes off behind him.”
—H.L. (Henry Lewis)