Literature DB >> 16798641

The codon 37 (TGG-->TAG) beta(0)-thalassemia mutation found in a Chinese family.

Dongzhi Li1, Can Liao, Jian Li, Xuewei Tang.   

Abstract

We have found an example of the nonsense beta-thalassemia (thal) mutation at codon 37 (TGG-->TAG; Trp-->Stop) in a Chinese family. The fetus, who inherited both parents' beta-thalassemic alleles, was a compound heterozygote for the codons 41/42 (-TCTT) and codon 37 (TGG-->TAG) mutations, and presented with the phenotype of severe beta-thal.

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Year:  2006        PMID： 16798641     DOI： 10.1080/03630260600642385

Source DB:  PubMed          Journal:  Hemoglobin        ISSN： 0363-0269            Impact factor:   0.849


  3 in total

1.  Development of K562 cell clones expressing beta-globin mRNA carrying the beta039 thalassaemia mutation for the screening of correctors of stop-codon mutations.

Authors:  Francesca Salvatori; Vera Cantale; Giulia Breveglieri; Cristina Zuccato; Alessia Finotti; Nicoletta Bianchi; Monica Borgatti; Giordana Feriotto; Federica Destro; Alessandro Canella; Laura Breda; Stefano Rivella; Roberto Gambari
Journal:  Biotechnol Appl Biochem       Date:  2009-07-09       Impact factor: 2.431

2.  Production of beta-globin and adult hemoglobin following G418 treatment of erythroid precursor cells from homozygous beta(0)39 thalassemia patients.

Authors:  Francesca Salvatori; Giulia Breveglieri; Cristina Zuccato; Alessia Finotti; Nicoletta Bianchi; Monica Borgatti; Giordana Feriotto; Federica Destro; Alessandro Canella; Eleonora Brognara; Ilaria Lampronti; Laura Breda; Stefano Rivella; Roberto Gambari
Journal:  Am J Hematol       Date:  2009-11       Impact factor: 10.047

3.  β-Thalassemia Mutation At Codon 37 (Tgg>>Tga) Detected In A Turkish Family.

Authors:  Derya Güleç; Sibel Bilgili; Nuriye Uzuncan; Giray Bozkaya; Nur Soyer; Baysal Karaca
Journal:  Turk J Haematol       Date:  2013-09-05       Impact factor: 1.831
  3 in total

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