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Examination of structural changes in the transforming growth factor β receptor 1 (TGFβR1) gene in patients with chronic heart failure

  • Human Genetics
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Abstract

We examined nine exons of transforming growth factor β receptor type 1 (TGFβR1) gene in patients with chronic heart failure with different types of heart remodelling. We identified two missense mutations (c.457G>A (p.V1531) and c.1285A>C (p.Y229S)) and two synonym substitutions (c.1125A>C (p.Y377Y) and c.516A>G (p.S172S)), as well as polymorphisms at splicing site c.1024+24G>A (rs334354). Substitutions c.1285A>C (p.Y229S) and c.516A>G (p.S172S) were not previously described.

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Authors and Affiliations

  1. Institute of Biochemistry and Genetics, Ufa Research Center, Russian Academy of Sciences, Ufa, 450054, Russia

    R. I. Khusainova & E. K. Khusnutdinova

  2. Department of Genetics and Fundamental Medicine, Bashkir State University, Ufa, 450074, Russia

    R. R. Valiev & E. K. Khusnutdinova

  3. Department of Genetics, Bashkir State Medical University, Ministry of Health and Social Development of the Russian Federation, Ufa, 450075, Russia

    A. E. Pushkareva

Authors
  1. R. I. Khusainova
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  2. A. E. Pushkareva
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  3. R. R. Valiev
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  4. E. K. Khusnutdinova
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Correspondence to R. I. Khusainova.

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Original Russian Text © R.I. Khusainova, A.E. Pushkareva, R.R. Valiev, E.K. Khusnutdinova, 2014, published in Genetika, 2014, Vol. 50, No. 5, pp. 611–618.

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Khusainova, R.I., Pushkareva, A.E., Valiev, R.R. et al. Examination of structural changes in the transforming growth factor β receptor 1 (TGFβR1) gene in patients with chronic heart failure. Russ J Genet 50, 536–542 (2014). https://doi.org/10.1134/S1022795414050068

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  • DOI: https://doi.org/10.1134/S1022795414050068

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