Literature DB >> 11570724

A novel splice acceptor site mutation of the alpha2-globin gene causing alpha-thalassemia.

N I Noguera1, F A González, R A Dávoli, A C Milani, A Villegas.   

Abstract

A novel nondeletional alpha-thalassemia mutation that affects RNA processing, changing the alpha2 IVS-II-142 splice acceptor consensus sequence from AG to AA, has been detected in an Argentinian patient with Hb H disease and her daughter.

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Year:  2001        PMID： 11570724     DOI： 10.1081/hem-100105224

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


  2 in total

Review 1.  Alpha-thalassaemia.

Authors:  Cornelis L Harteveld; Douglas R Higgs
Journal:  Orphanet J Rare Dis       Date:  2010-05-28       Impact factor: 4.123

2.  Interaction of Hb adana (HBA2: c.179G>A) with deletional and nondeletional α(+)-thalassemia mutations: diverse hematological and clinical features.

Authors:  Ita M Nainggolan; Alida Harahap; Debby D Ambarwati; Rosalina V Liliani; Dewi Megawati; Maria Swastika; Iswari Setianingsih
Journal:  Hemoglobin       Date:  2013-04-25       Impact factor: 0.849
  2 in total

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