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English

The investigators compared DNA from affected individuals in a family to those in the same family who didn’t have the disorder. Eventually, they identified two families that carried the same variation in the phospholipase-D 3 gene (PLD3).

Spanish

Al final, identificaron dos familias que portaban la misma variante genética en el gen de la fosfolipasa D3 (phospholipase D3, o PLD3), y esa variante estaba presente únicamente en los familiares con la enfermedad.