First description of germline mosaicism in familial hypertrophic cardiomyopathy

Familial hypertrophic cardiomyopathy is a genetically and phenotypically heterogeneous disease caused by mutations in seven sarcomeric protein genes. It is known to be transmitted as an autosomal dominant trait with rare de novo mutations.
A French family in which two members are affected by hypertr...

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Autores principales: Forissier, J., Richard, P., Briault, S., Ledeuil, C., Dubourg, O., Charbonnier, B., Carrier, L., Moraine, C., Bonne, G., Komajda, M., Schwartz, K., Hainque, B.
Formato: Artigo
Lenguaje:Inglês
Publicado: BMJ Group 2000
Materias:
Short Report
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC1734529/
https://ncbi.nlm.nih.gov/pubmed/10662815
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.37.2.132
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