Counselling issues in familial hypertrophic cardiomyopathy.

To illustrate the variable clinical presentations and rates of progression in familial hypertrophic cardiomyopathy (FHC), phenotypes and genotypes were compared in three FHC families with different genetic defects. In the first family, the FHC abnormality was a protein truncating mutation (Gln969X)...

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Detalhes bibliográficos
Main Authors: Yu, B, French, J A, Jeremy, R W, French, P, McTaggart, D R, Nicholson, M R, Semsarian, C, Richmond, D R, Trent, R J
Formato: Artigo
Idioma:Inglês
Publicado em: 1998
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1051239/
https://ncbi.nlm.nih.gov/pubmed/9541100
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