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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Detaylı Bibliyografya
Asıl Yazarlar: Yu, B, French, J A, Jeremy, R W, French, P, McTaggart, D R, Nicholson, M R, Semsarian, C, Richmond, D R, Trent, R J
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: 1998
Konular:
Research Article
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC1051239/
https://ncbi.nlm.nih.gov/pubmed/9541100
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