Article
[Clinical and Genetic Characteristics of Russian Marfan Patients].
Genetika - 1 Jul 2015
Semyachkina A N, Adyan T A, Khabadze M N, Novikov P V, Polyakov A V
Abstract excerpt
The results of direct DNA diagnostics in nine patients with Marfan syndrome, aged from two to 52 years old, and four unhealthy relatives with the same disease from two unrelated families have been presented for the first time in Russia. Eight mutations in the gene FBN1 were revealed. One patient demonstrated a substitution with unknown clinical importance, which was previously described in the SN P database as...
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