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:
“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)
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—Sarah Patton Boyle, U.S. civil rights activist and author. The Desegregated Heart, part 1, ch. 10 (1962)
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—H.L. (Henry Lewis)