Spectrum and clinical manifestations of mutations in genes responsible for hypertrophic cardiomyopathy.

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F26475821%3A_____%2F12%3A%230000108" target="_blank" >RIV/26475821:_____/12:#0000108 - isvavai.cz</a>

Result on the web

—

DOI - Digital Object Identifier

—

Result language

angličtina

Original language name

Spectrum and clinical manifestations of mutations in genes responsible for hypertrophic cardiomyopathy.

Original language description

Hypertrophic cardiomyopathy (HCM) is a cardiovascular disease with autosomal dominant inheritance. It is caused by mutations in the genes coding for structural and/or regulatory proteins found in the sarcomere of cardiomyocytes. A group of genes, including the heavy chain of beta-myosin (MYH7), myosin binding protein C (MYBPC3), cardiac troponin I (TNNI3) and cardiac troponin T (TNNT2) are frequently affected by causal mutations. We performed a complete sequencing of MYH7, MYBPC3, TNNI3 and TNNT2 genesin 100 HCM patients.

Czech name

—

Czech description

—

Type

J_x - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)

CEP classification

FA - Cardiovascular diseases including cardio-surgery

OECD FORD branch

—

Project

<a href="/en/project/NR9164" target="_blank" >NR9164: Clinical and functional correlates of hypertrophic cardiomyopathy in Czech population</a><br>

Continuities

P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)

Publication year

2012

Confidentiality

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Name of the periodical

Acta Cardiologica

ISSN

0373-7934

e-ISSN

—

Volume of the periodical

67

Issue of the periodical within the volume

1

Country of publishing house

BE - BELGIUM

Number of pages

7

Pages from-to

23-29

UT code for WoS article

—

EID of the result in the Scopus database

—