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Mutación C677T del gen de la metilentetrahidrofolato reductasa

Mutación C677T del gen de la metilentetrahidrofolato reductasa

Desirée Martínez Briones

12,22 €
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Editorial:
Lulu Press
Año de edición:
2022
Materia
Genética médica
ISBN:
9781471026829
12,22 €
IVA incluido
Disponible
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En los últimos años se han descrito numerosos polimorfismos asociados con un mayor o menor riesgo a padecer una enfermedad trombótica en sus distintas variantes. Una de estas mutaciones de interés es la C677T del gen metilentetrahidrofolato reductasa (MTHFR), que consiste en la sustitución de una citosina por una timina en el nucleótido 677. Este cambio de aminoácido genera una variante de MTHFR termolábil con capacidad reducida para metabolizar la homocisteína, que podrá aumentar el riesgo de formar coágulos sanguíneos y dañar el interior de las arterias.

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