Exome Sequencing and Functional Analysis Identifies BANF1 Mutation as the Cause of a Hereditary Progeroid Syndrome Xose S. Puente, Victor Quesada, Fernando.
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Exome Sequencing and Functional Analysis Identifies BANF1 Mutation as the Cause of a Hereditary Progeroid Syndrome
Xose S. Puente, Victor Quesada, Fernando G. Osorio, Rubén Cabanillas, Juan Cadiñanos, Julia M. Fraile, Gonzalo R. Ordóñez, Diana A. Puente, Ana Gutiérrez-Fernández, Miriam Fanjul-Fernández, Nicolas Lévy, José M.P. Freije, Carlos López-Otín
The American Journal of Human Genetics Volume 88, Issue 5, Pages 650-656 (May 2011)