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
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