The Rare Codon 24 (TA) (+) Mutation in Association with the Common Codon 39 (C T) (0) Mutation Causes Transfusion-Dependent -Thalassemia in a Moroccan Patient

被引：4
作者：
Agouti, Imane
Bennani, Mohcine
Levy, Nicolas
Giordano, Piero
Badens, Catherine
机构：
[1] Laboratoire de Biologie Appliquée, Faculté des Sciences et Techniques, Tanger Maroc
[2] Centre d'Enseignement et de Recherche en Génétique Médicate, Unité INSERM U 910, Faculté de Médecine, Marseille
[3] Hemoglobinopathies Laboratory, Leiden University, Medical Center, Leiden
[4] Laboratoire de Biologie Appliquee, Equipe de Genetique Moleculaire, Departement de Biologie, Faculte des Sciences et Techniques, Maroc
来源：
HEMOGLOBIN | 2009年 / 33卷 / 02期
关键词：
-Thalassemia; Rare mutation; Morocco; BETA-GLOBIN GENE; MOLECULAR-BASIS; HETEROGENEITY; DNA; INTERMEDIA; DIAGNOSIS; SEQUENCE; RNA;
D O I：
10.1080/03630260902861998
中图分类号：
Q5 [生物化学]; Q7 [分子生物学];
学科分类号：
071010 ; 081704 ;
摘要：
We present the rare codon 24 (T A) (+) mutation causing transfusion-dependent -thalassemia (-thal) in combination with the common codon 39 (C T) (0) defect in a Moroccan boy. We report the characterization of the mutation, phenotype, haplotype and possible origin of the first case in Morocco and discuss the significance of this genotype combination with a 0 defect.
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收藏
页码：150 / 154
页数：5
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