Expression of HCM causing mutations: lessons learnt from genotype-phenotype studies of the South African founder MYH7 A797T mutation
نویسندگان
چکیده
منابع مشابه
Expression of HCM causing mutations: lessons learnt from genotype-phenotype studies of the South African founder MYH7 A797T mutation.
Genotype-phenotype correlations provide another perspective in studies seeking to identify the factors that underlie the clinical variability that is a feature of several inherited diseases. This approach has been particularly revealing in investigations into the molecular causes and phenotypic heterogeneity associated with hypertrophic cardiomyopathy (HCM), a common inherited primary cardiac d...
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ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 2000
ISSN: 1468-6244
DOI: 10.1136/jmg.37.12.951