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)
“However backwards the world has been in former ages in the discovery of such points as GOD never meant us to know,—we have been more successful in our own days:Mthousands can trace out now the impressions of this divine intercourse in themselves, from the first moment they received it, and with such distinct intelligence of its progress and workings, as to require no evidence of its truth.”
—Laurence Sterne (1713–1768)
“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)