About: A Novel Missense Mutation, Leu390Val, in the Cardiac ß-myosin Heavy Chain Associated with Pronounced Septal Hypertrophy in Two Families with Hypertrophic Cardiomyopathy

Facets (new session)
Description
Metadata
Settings
- owl:sameAs
- Inference Rule:

About: A Novel Missense Mutation, Leu390Val, in the Cardiac ß-myosin Heavy Chain Associated with Pronounced Septal Hypertrophy in Two Families with Hypertrophic Cardiomyopathy Goto Sponge NotDistinct Permalink

An Entity of Type : wikibase:Item, within Data Space : wikidata.demo.openlinksw.com associated with source document(s)

scientific article published on 01 December 2000

Attributes	Values
rdf:type	Item
description	wetenschappelijk artikel (nl) наукова стаття, опублікована в січні 2000 (uk) مقالة علمية تنشرت ف 1 دجنبر 2000 (ary) article scientifique publié en 2000 (fr) artículu científicu espublizáu n'avientu de 2000 (ast) scientific article published on 01 December 2000 (en)
publication date	wds:Q57807325-4F3997AF-8A22-45FE-8CA3-5D6BE20D5976
publication date	2000-12-01 00:00:00Z (xsd:dateTime)
cites work	wds:Q57807325-025B46CD-63A0-4159-B8FE-328FF5043997 wds:Q57807325-611E790F-8829-49D2-B848-C8DDE73DB802 wds:Q57807325-81C1B3D5-0A14-4EC8-B67B-350C71EAB7F6 wds:Q57807325-AD690C6D-544A-414B-BF14-90D56F9CA232 wds:Q57807325-DADF4D2C-F7B1-46BD-9EAE-B2628B8E72B3
cites work	The complete sequence of the human beta-myosin heavy chain gene and a comparative analysis of its product Abnormal contractile properties of muscle fibers expressing beta-myosin heavy chain gene mutations in patients with hypertrophic cardiomyopathy Characteristics and prognostic implications of myosin missense mutations in familial hypertrophic cardiomyopathy Alpha-cardiac actin is a novel disease gene in familial hypertrophic cardiomyopathy Functional analysis of the mutations in the human cardiac beta-myosin that are responsible for familial hypertrophic cardiomyopathy. Implication for the clinical outcome
author name string	wds:Q57807325-8212734D-98BD-4C89-AB3E-A4E3F644F80F wds:Q57807325-A5287749-E105-45ED-8976-ADBE1375D653 wds:Q57807325-EF35FD74-7D18-4E63-8710-A9BB4FE9A6D6 wds:Q57807325-FE5E79AD-2EA8-41B5-9749-9FB90489E732
author name string	Christiansen M Kjeldsen K Vuust J Havndrup O
rdfs:label	A Novel Missense Mutation, Leu390Val, in the Cardiac ß-myosin Heavy Chain Associated with Pronounced Septal Hypertrophy in Two Families with Hypertrophic Cardiomyopathy (en) A Novel Missense Mutation, Leu390Val, in the Cardiac ß-myosin Heavy Chain Associated with Pronounced Septal Hypertrophy in Two Families with Hypertrophic Cardiomyopathy (nl)
skos:prefLabel	A Novel Missense Mutation, Leu390Val, in the Cardiac ß-myosin Heavy Chain Associated with Pronounced Septal Hypertrophy in Two Families with Hypertrophic Cardiomyopathy (en) A Novel Missense Mutation, Leu390Val, in the Cardiac ß-myosin Heavy Chain Associated with Pronounced Septal Hypertrophy in Two Families with Hypertrophic Cardiomyopathy (nl)
name	A Novel Missense Mutation, Leu390Val, in the Cardiac ß-myosin Heavy Chain Associated with Pronounced Septal Hypertrophy in Two Families with Hypertrophic Cardiomyopathy (en) A Novel Missense Mutation, Leu390Val, in the Cardiac ß-myosin Heavy Chain Associated with Pronounced Septal Hypertrophy in Two Families with Hypertrophic Cardiomyopathy (nl)
author	wds:Q57807325-0DA4584B-9CD5-424D-98AF-5942A30E73B3 wds:Q57807325-2EE0776C-2D81-47E1-BBE2-C346D0B17190 wds:Q57807325-B6787CEB-9EFE-4E80-9549-56BF232152B1
author	Henning Bundgaard Paal S Andersen Lars A Larsen
title	wds:Q57807325-38601CA1-C066-487F-8310-FB46DB28C813
title	A novel missense mutation, Leu390Val, in the cardiac beta-myosin heavy chain associated with pronounced septal hypertrophy in two families with hypertrophic cardiomyopathy (en)
page(s)	wds:Q57807325-D928A9CF-B513-4FDA-BDCF-4274340AE14C
page(s)	558-563
instance of	wds:Q57807325-C66E97BC-DBCF-4715-8B5E-F6B25A1A6BCC
instance of	scholarly article
main subject	wds:Q57807325-2F24CC8D-7920-4113-8EDA-BC7192921C27
main subject	hypertrophic cardiomyopathy
PubMed ID	wds:Q57807325-D2A6BEF6-67D2-4471-99AF-3B3F771B79F0
PubMed ID	http://rdf.ncbi.nlm.nih.gov/pubchem/reference/11214007
PubMed ID	11214007
published in	wds:Q57807325-A07A095A-2DEC-473C-AD73-E51A3C7663EE
published in	Scandinavian Cardiovascular Journal
issue	wds:Q57807325-0484CE1E-BE9F-47E9-ABAA-C50D3A0D36A7
volume	wds:Q57807325-296475AF-C3E4-4D02-AF9E-CBDD72101AB7
issue	6
volume	34
DOI	wds:Q57807325-C7F27ACA-15BA-4536-A1C9-FB82F740C733
DOI	http://dx.doi.org/10.1080/140174300750064477
DOI	10.1080/140174300750064477
is about of	https://www.wikidata.org/wiki/Special:EntityData/Q57807325
is cites work of	Diagnostic yield, interpretation, and clinical utility of mutation screening of sarcomere encoding genes in Danish hypertrophic cardiomyopathy patients and relatives Closely spaced multiple mutations as potential signatures of transient hypermutability in human genes One third of Danish hypertrophic cardiomyopathy patients with MYH7 mutations have mutations [corrected] in MYH7 rod region. Echocardiographic evaluation of pre-diagnostic development in young relatives genetically predisposed to hypertrophic cardiomyopathy. The heart of the matter--new insights into the genetics of cardiomyopathy
is cites work of	wds:Q50579042-75DCBDE3-1C71-4C55-BB3B-582DD5CE4BA7 wds:Q53399558-7BD532E5-3C8C-43B7-BA03-37C15816C238 wds:Q57263735-770507B2-EC38-4845-9E3A-B4F05D5345E0 wds:Q73526702-07EE2CF2-2F3D-4844-B3AD-05CEBB2B1482 wds:Q28301903-B8B6A5E3-558F-4BAF-A5D6-622ED0E32048

Faceted Search & Find service v1.16.117 as of May 05 2024

Alternative Linked Data Documents: ODE Content Formats:

RDF

ODATA

Microdata

About

OpenLink Virtuoso version 07.20.3239 as of May 5 2024, on Linux (x86_64-centos_6-linux-gnu), Single-Server Edition (378 GB total memory, 180 GB memory in use)
Data on this page belongs to its respective rights holders.
Virtuoso Faceted Browser Copyright © 2009-2025 OpenLink Software