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los adenomas fap aparecen como resultado de mutaciones de perdida de función del gen apc. esto es característico de los supresores de tumores.
this region of the chromosome is also involved in nonfamilial forms of colon cancer. fap adenomas appear as a result of loss-of function mutations to the apc gene, a characteristic of all tumor suppressors.
en estudios genéticos en humanos, se han identificado variantes de la pcsk9 tanto con mutaciones de pérdida de función como con mutaciones de ganancia de función.
in genetic studies in humans, pcsk9 variants with either loss-of-function or gain-of-function mutations have been identified.
esta enfermedad destruye las células del cerebro, lo que provoca cambios en la memoria, comportamientos erráticos y la pérdida de funciones corporales.
this disease destroys brain cells, which causes memory changes, erratic behaviors and loss of body functions.
gravedad de la neuropatía grado 1 (parestesia, debilidad y/o pérdida de reflejos) sin pérdida de función
severity of neuropathy grade 1 (paraesthesia, weakness and/or loss of reflexes) with no loss of function grade 2 (interfering with function but not with activities of daily living)
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