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

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 (...

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Veröffentlicht in:	Russian journal of genetics 2014-05, Vol.50 (5), p.536-542
Hauptverfasser:	Khusainova, R. I, Pushkareva, A. E, Valiev, R. R, Khusnutdinova, E. K
Format:	Artikel
Sprache:	eng
Schlagworte:	Animal Genetics and Genomics Biomedical and Life Sciences Biomedicine exons genes heart heart failure Human Genetics Microbial Genetics and Genomics missense mutation patients transforming growth factors
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Zusammenfassung:	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.
ISSN:	1022-7954 1608-3369
DOI:	10.1134/S1022795414050068