Familial hypertrophic cardiomyopathy owing to double heterozygosity for a 403Arg-Trp mutation in exon 13 of the MYH7 gene and a novel mutation, 453Arg-His, in exon 14 of the MYH7 gene

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F63221667%3A_____%2F01%3A00006904" target="_blank" >RIV/63221667:_____/01:00006904 - isvavai.cz</a>

Result on the web

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DOI - Digital Object Identifier

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Result language

angličtina

Original language name

Familial hypertrophic cardiomyopathy owing to double heterozygosity for a 403Arg-Trp mutation in exon 13 of the MYH7 gene and a novel mutation, 453Arg-His, in exon 14 of the MYH7 gene

Original language description

An unusual clinical history of a 23-year-old male proband with obstructive hypertrophic cardiomyopathy associated with a rare genotype is presented. Genetic analysis of the proband found evidence for two distinct mutations of the MYH7 gene (the gene coding for the beta-myosin heavy chain):403Arg-Trp in exon 13 and a novel mutation, 453Arg-His, in exon 14. A heterozygous site mutation was identified in exon 13 in the proband's father but no mutation site was found in his mother. Thus, the novel mutationin exon 14 is a de novo mutation.

Czech name

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Czech description

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Type

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

CEP classification

EB - Genetics and molecular biology

OECD FORD branch

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Project

<a href="/en/project/NA4966" target="_blank" >NA4966: Familiar hypertrophic cardiomyopathy: detection of mutations in exons 14, 16, 20, 23 of the gene coding for beta-myosin heavy (MYH7).</a><br>

Continuities

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

Publication year

2001

Confidentiality

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

Name of the periodical

Experimental and clinical cardiology

ISSN

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e-ISSN

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Volume of the periodical

6

Issue of the periodical within the volume

4

Country of publishing house

CA - CANADA

Number of pages

5

Pages from-to

223-227

UT code for WoS article

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EID of the result in the Scopus database

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