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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) DOI: 10.1016/j.ajhg.2011.04.010 Copyright © 2011 The American Society of Human Genetics Terms and Conditions

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Page 1: Exome Sequencing and Functional Analysis Identifies BANF1 Mutation as the Cause of a Hereditary Progeroid Syndrome Xose S. Puente, Victor Quesada, Fernando

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)

DOI: 10.1016/j.ajhg.2011.04.010

Copyright © 2011 The American Society of Human Genetics Terms and Conditions

http://www.elsevier.com/termsandconditions
Page 2: Exome Sequencing and Functional Analysis Identifies BANF1 Mutation as the Cause of a Hereditary Progeroid Syndrome Xose S. Puente, Victor Quesada, Fernando

Figure 1

The American Journal of Human Genetics 2011 88, 650-656DOI: (10.1016/j.ajhg.2011.04.010) Copyright © 2011 The American Society of Human Genetics Terms and Conditions

http://www.elsevier.com/termsandconditions
Page 3: Exome Sequencing and Functional Analysis Identifies BANF1 Mutation as the Cause of a Hereditary Progeroid Syndrome Xose S. Puente, Victor Quesada, Fernando

Figure 2

The American Journal of Human Genetics 2011 88, 650-656DOI: (10.1016/j.ajhg.2011.04.010) Copyright © 2011 The American Society of Human Genetics Terms and Conditions

http://www.elsevier.com/termsandconditions
Page 4: Exome Sequencing and Functional Analysis Identifies BANF1 Mutation as the Cause of a Hereditary Progeroid Syndrome Xose S. Puente, Victor Quesada, Fernando

Figure 3

The American Journal of Human Genetics 2011 88, 650-656DOI: (10.1016/j.ajhg.2011.04.010) Copyright © 2011 The American Society of Human Genetics Terms and Conditions

http://www.elsevier.com/termsandconditions
Page 5: Exome Sequencing and Functional Analysis Identifies BANF1 Mutation as the Cause of a Hereditary Progeroid Syndrome Xose S. Puente, Victor Quesada, Fernando

Figure 4

The American Journal of Human Genetics 2011 88, 650-656DOI: (10.1016/j.ajhg.2011.04.010) Copyright © 2011 The American Society of Human Genetics Terms and Conditions

http://www.elsevier.com/termsandconditions

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