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

Author:

Rawa Katarzyna,Szczesny Roman J.,Owczarek Ewelina P.,Adamowicz-Salach Anna,Klukowska Anna,Demkow Urszula,Plochocka Danuta,Szczesny Pawel,Gora Monika,Dziembowski Andrzej,Burzynska BeataORCID

Funder

Ministerstwo Nauki i Szkolnictwa Wyższego

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Reference19 articles.

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2. Jamet D, Pissard S, Blouch MT, Berthou C, De Braekeleer M, Abgrall JF. B-thalassaemia in the indigenous population of Brittany: identification of three rare mutations. Haematologica. 2006;91:1418–9.

3. Landin B, Berglund S. A novel mutation in the beta-globin gene causing beta-thalassaemia in a Swedish family. Eur J Haematol. 1996;57(2):182–4.

4. Kohne E, Kleihauer E. Hemoglobinopathies: a longitudinal study over four decades. Dtsch Arztebl Int. 2010;107(5):65–71.

5. Maciag M, Płochocka D, Adamowicz-Salach A, Jackowska T, Mendek-Czajkowska E, Pawelczyk A, Zdebska E, Burzynska B. Diversity of thalassemia variants in Poland - screening by real-time PCR. Acta Haematol. 2008;120(3):153–7.

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