ملخص
Point mutations are responsible for the majority of the disease-causing alleles in β-thalassemia (β-thal) worldwide. We report here a novel deletional variant β-thal allele in an ethnic Qatari patient, hitherto unreported in the literature. The deletion spans exon 1, the entire intron 1 and the first two bases of exon 2 causing a frameshift and the premature appearance of a stop codon.
اللغة الأصلية | English |
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الصفحات (من إلى) | 214-219 |
عدد الصفحات | 6 |
دورية | Hemoglobin |
مستوى الصوت | 33 |
رقم الإصدار | 3-4 |
المعرِّفات الرقمية للأشياء | |
حالة النشر | Published - يونيو 2009 |
ASJC Scopus subject areas
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