Ascertainment and severity of Marfan syndrome in a Scottish population.

This study in north east Scotland has shown that Marfan syndrome has a minimal birth incidence of 1:9802 live births, a minimal prevalence of 1:14217, and that 8/30 (26.7%) of cases in our series are new mutations. The calculated mutation rate is 15 +/- 6.7 x 10(-6) and there is evidence of reduced...

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Autori principali: Gray, J R, Bridges, A B, Faed, M J, Pringle, T, Baines, P, Dean, J, Boxer, M
Natura: Artigo
Lingua:Inglês
Pubblicazione: 1994
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Research Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC1049599/
https://ncbi.nlm.nih.gov/pubmed/8151638
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