Video Experimental Relacionado

Updated: Apr 26, 2026

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
07:15

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation

Published on: January 16, 2019

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Las variantes genéticas asociadas con las reacciones adversas cutáneas graves relacionadas con la fenitoína

Wen-Hung Chung1, Wan-Chun Chang2, Yun-Shien Lee3

  • 1Department of Dermatology, Chang Gung Memorial Hospital, Keelung, Taiwan2Department of Dermatology, Drug Hypersensitivity Clinical and Research Center, Chang Gung Memorial Hospital, Linkou, Taiwan3College of Medicine, Chang Gung University, Taoyuan, Taiwa.

JAMA
|August 7, 2014
PubMed
Resumen

Los factores genéticos, específicamente las variantes del CYP2C como el CYP2C9*3, están relacionados con las reacciones adversas cutáneas graves de la fenitoína. Estas variantes reducen el aclaramiento del fármaco, aumentando el riesgo de estas reacciones peligrosas.

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