| Autor: |
Husainova RI, Pushkareva AE, Valiev RR, Husnutdinova EK |
| Jazyk: |
ruština |
| Zdroj: |
Genetika [Genetika] 2014 May; Vol. 50 (5), pp. 611-8. |
| Abstrakt: |
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. |
| Databáze: |
MEDLINE |
| Externí odkaz: |
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