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Frameshift Codon 5 [FSC-5 (−CT)] Thalassemia; a Novel Mutation Detected in a Greek Patient

 

作者: KolliaP.,   GonzalezJ. M.,   StomingT. A.,   LoukopoulosD.,   PolitisC.,   HuismanT. H. J.,  

 

期刊: Hemoglobin  （Taylor Available online 1989）
卷期: Volume 13, issue 6  

页码: 597-604

 

ISSN:0363-0269

 

年代: 1989

 

DOI:10.3109/03630268908993110

 

出版商: Taylor&Francis

 

数据来源: Taylor

 

摘要:

Sequence analysis and dot-blot hybridization of DNA from a Greek patient with a transfusion dependent thalassemia revealed the combination of aβIVS-I-1 G→-A mutation (β˚-thalassemia) and a hitherto undescribed frameshift mutation; the latter concerns the absence of a CT dinucleotide from codon 5 and results in a termination signal at the new codon 21 (also aβ˚-thalassemia).

 

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