Linked Life Data

9001794

Source:http://linkedlifedata.com/resource/pubmed/id/9001794

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
4
pubmed:dateCreated
1997-3-26
pubmed:abstractText
Counselling and clinical assessment in familial hypertrophic cardiomyopathy (FHC) is difficult, particularly in the young, since echocardiographic and ECG changes may not be diagnostic and clinical severity can vary. From 1990, when the beta-cardiac myosin heavy chain gene was implicated in the aetiology of FHC, considerable information about the molecular genetics of this disorder has emerged. However, an important question facing health professionals is the practical significance of DNA testing in FHC. The present study describes a DNA-based approach to screening for five commonly reported mutations involving the beta-cardiac myosin heavy chain gene. Approximately 11% of randomly selected families had an abnormality detected.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Oct
pubmed:issn
0009-9163
pubmed:author
pubmed:issnType
Print
pubmed:volume
50
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
169-75
pubmed:dateRevised
2010-11-18
pubmed:meshHeading
pubmed:year
1996
pubmed:articleTitle
DNA testing in familial hypertrophic cardiomyopathy: clinical and laboratory implications.
pubmed:affiliation
Department of Molecular Genetics, Royal Prince Alfred Hospital, Camperdown, NSW, Australia.
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't