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)
“We are all humiliated by the sudden discovery of a fact which has existed very comfortably and perhaps been staring at us in private while we have been making up our world entirely without it.”
—George Eliot [Mary Ann (or Marian)
“I have known no experience more distressing than the discovery that Negroes didn’t love me. Unutterable loneliness claimed me. I felt without roots, like a man without a country ...”
—Sarah Patton Boyle, U.S. civil rights activist and author. The Desegregated Heart, part 1, ch. 10 (1962)