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The Unstable HB Hammersmith orα2β242(CD1)PHE→SER Observed in an Indian Child; Identification by HPLC AND by Sequence Analysis of Amplified DNA

 

作者: CunninghamT. A.,   BakerF.,   KobrinskylN. L.,   CepreganovaB.,   BaysalE.,   WilsonJ. B.,   HuiwnanT. H. J.,  

 

期刊: Hemoglobin  （Taylor Available online 1992）
卷期: Volume 16, issue 1-2  

页码: 19-25

 

ISSN:0363-0269

 

年代: 1992

 

DOI:10.3109/03630269209005672

 

出版商: Taylor&Francis

 

数据来源: Taylor

 

摘要:

We have identified the unstable hemoglobin variant present in a Chipewayan Indian patient with severe hemolytic anemia as Hb Hammersmith orα2β242(CD1)Phe→Ser. Her parents were normal. Identification was greatly facilitated by the use of reversed phase high performance liquid chromatography for the isolation of theβXchain and its tryptic fragments, and of sequence analysis of amplified DNA which readily identified a TTT(Phe)ŤT(Ser) mutation at codon 42.

 

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