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Familial supravalvular aortic stenosis: a genetic study.

Supravalvular aortic stenosis (McKusick 18550) is a rare hereditary condition with autosomal dominant transmission. However, the available data have been limited to small family groups which do not allow the definition of the degree of penetrance of the disease. The present study describes a large f...

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Dettagli Bibliografici
Pubblicato in:J Med Genet
Autori principali: Chiarella, F, Bricarelli, F D, Lupi, G, Bellotti, P, Domenicucci, S, Vecchio, C
Natura: Artigo
Lingua:Inglês
Pubblicazione: BMJ Publishing Group 1989
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Accesso online:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC1015556/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/2918546/
https://ncbi.nlm.nih.govhttps://doi.org/10.1136/jmg.26.2.86
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