CYP2C19 loss-of-function alleles

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Warning: Diminished Antiplatelet Effect in Patients with Two Loss-of-function Alleles of the Cyp2c19 Gene

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Frequencies of two CYP2C19 defective alleles (CYP2C19*2, and *3) among Iranian population in Mazandaran Province

Background: Cytochrome P450 2C19 (CYP2C19) is a polymorphically expressed enzyme that shows marked interindividual and interethnic variation. CYP2C19*2 and CYP2C19*3 are the most frequently identified defective alleles in Orientals and Caucasian poor metabolizers (PM). The aim of this study was to investigate the frequencies of CYP2C19*1, CYP2C19*2 and CYP2C19*3 alleles and CYP2C19 genotypes in...

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Identification of new human CYP2C19 alleles (CYP2C19*6 and CYP2C19*2B) in a Caucasian poor metabolizer of mephenytoin.

A genetic polymorphism in the metabolism of the anticonvulsant drug S-mephenytoin has been attributed to defective CYP2C19 alleles. This genetic polymorphism displays large interracial differences with the poor metabolizer (PM) phenotype representing 2-5% of Caucasian and 13-23% of Oriental populations. In the present study, we identified two new mutations in CYP2C19 in a single Swiss Caucasian...

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frequencies of two cyp2c19 defective alleles (cyp2c19*2, and *3) among iranian population in mazandaran province

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Identification and Management of Loss of Function Alleles

This paper defines some of the scientific terms used when discussing genetic conditions, and reviews the genetic implications and consequences of mating individuals with various genotypes. Many genetic defects are recessive, and the reason for this is that mutant alleles often render the resulting protein nonfunctional. These are called “loss of function” alleles. In many cases if an individual...

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ژورنال

عنوان ژورنال: Journal of the Chinese Medical Association

سال: 2019

ISSN: 1726-4901

DOI: 10.1097/jcma.0000000000000168