A Novel β+-Thalassemia Mutation (Codon 10 GCC → GCA) and a Rare Transcriptional Mutation (−28A → G) in Indians
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منابع مشابه
Identification of a Rare Synonymous Beta Globin Mutation, HBB:c.180G>A codon 59 (G>A) in an Iranian Patient
Beta thalassemia is the most common autosomal recessive disorder. The present study reports a rare β globin gene mutation, HBB: c.180G>A: codon 59 (AAG/AAA), in a patient from Gilan province, northern Iran. Nucleotide sequencing of amplified DNA belonging to a 35 years old man presenting mild hypochromia revealed a synonymous mutation due to a G>A conversion at the third position of codon 59 o...
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The β-globin gene mutation at codon 37 [TGG (Trp)→TGA (stop codon)] gives rise to a β0-thalassemia that was described first by Boehm et al. in 1986 in a Saudi Arabian family [1]. Thereafter, other nonsense codon 37 mutations have been reported [1,2,3,4]. Another mutation at codon 37 (TGG/TAG; tryptophan→stop codon) has also been reported previously [5,6]. Premature stop of translation results i...
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ژورنال
عنوان ژورنال: Blood
سال: 1997
ISSN: 1528-0020,0006-4971
DOI: 10.1182/blood.v89.10.3888