Literature DB >> 18591626

Defective mRNA levels are responsible for a beta-thalassemia phenotype associated with Hb Federico II, a novel hemoglobin variant [beta-106 (G8) Leu->Val].

Michela Grosso, Ilaria Palumbo, Emanuela Morelli, Stella Puzone, Raffaele Sessa, Paola Izzo.   

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Year:  2008        PMID： 18591626     DOI： 10.3324/haematol.11722

Source DB:  PubMed          Journal:  Haematologica        ISSN： 0390-6078            Impact factor:   9.941


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  2 in total

1.  Two novel C-terminal frameshift mutations in the β-globin gene lead to rapid mRNA decay.

Authors:  Katarzyna Rawa; Roman J Szczesny; Ewelina P Owczarek; Anna Adamowicz-Salach; Anna Klukowska; Urszula Demkow; Danuta Plochocka; Pawel Szczesny; Monika Gora; Andrzej Dziembowski; Beata Burzynska
Journal:  BMC Med Genet       Date:  2017-06-08       Impact factor: 2.103

2.  Three Mexican Families with β thalassemia intermedia with different molecular basis.

Authors:  Lourdes Del Carmen Rizo de la Torre; Francisco Javier Perea Díaz; Bertha Ibarra Cortés; Víctor Manuel Rentería López; Josefina Yoaly Sánchez López; Francisco Javier Sánchez Anzaldo; María Teresa Magaña Torres; Katia Gonnet; Catherine Badens; Nathalie Bonello-Palot
Journal:  Genet Mol Biol       Date:  2020-02-03       Impact factor: 1.771
  2 in total

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