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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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Enregistré dans:
Détails bibliographiques
Auteurs principaux: Yu, B, French, J A, Jeremy, R W, French, P, McTaggart, D R, Nicholson, M R, Semsarian, C, Richmond, D R, Trent, R J
Format: Artigo
Langue:Inglês
Publié: 1998
Sujets:
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC1051239/
https://ncbi.nlm.nih.gov/pubmed/9541100
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