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:
“That the discovery of this great truth, which lies so near and obvious to the mind, should be attained to by the reason of so very few, is a sad instance of the stupidity and inattention of men, who, though they are surrounded with such clear manifestations of the Deity, are yet so little affected by them, that they seem as it were blinded with excess of light.”
—George Berkeley (1685–1753)
“The gain is not the having of children; it is the discovery of love and how to be loving.”
—Polly Berrien Berends (20th century)
“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)