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:
“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 (18481925)
“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 (18941963)
“The discovery of the North Pole is one of those realities which could not be avoided. It is the wages which human perseverance pays itself when it thinks that something is taking too long. The world needed a discoverer of the North Pole, and in all areas of social activity, merit was less important here than opportunity.”
—Karl Kraus (18741936)