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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Hlavní autoři: Yu, B, French, J A, Jeremy, R W, French, P, McTaggart, D R, Nicholson, M R, Semsarian, C, Richmond, D R, Trent, R J
Médium: Artigo
Jazyk:Inglês
Vydáno: 1998
Témata:
Research Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC1051239/
https://ncbi.nlm.nih.gov/pubmed/9541100
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