Incomplete Penetrance for Isolated Congenital Asplenia in Humans with Mutations in Translated and Untranslated RPSA Exons
Incomplete penetrance for isolated congenital asplenia in humans with mutations in translated and untranslated RPSA exons Alexandre Bolzea,b, Bertrand Boissona,c,d,1, Barbara Boscha, Alexander Antipenkoa, Matthieu Bouazizc,d, Paul Sacksteina, Malik Chaker-Margote, Vincent Barlogisf, Tracy Briggsg,h, Elena Colinoi, Aurora C. Elmorej, Alain Fischerd,k,l,m,n, Ferah Genelo, Angela Hewlettp,MaherJedidiq, Jadranka Kelecicr,RenateKrügers, Cheng-Lung Kut, Dinakantha Kumararatneu, Alain Lefevre-Utilev, Sam Loughlinw, Nizar Mahlaouid,k,l,n, Susanne Markusx, Juan-Miguel Garciay, Mathilde Nizonz, Matias Oleastroaa,MalgorzataPacbb, Capucine Picardd,k,cc, Andrew J. Pollarddd, Carlos Rodriguez-Gallegoee, Caroline Thomasff,HorstVonBernuths,gg,hh, Austen Worthii, Isabelle Meytsjj,kk, Maurizio Risolinoll,mm,nn,oo,pp, Licia Sellerill,mm,nn,oo,pp, Anne Puela,c,d, Sebastian Klingee,LaurentAbela,c,d, and Jean-Laurent Casanovaa,c,d,l,qq,1 aSt. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065; bHelix, San Carlos, CA 94070; cLaboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, 75015 Paris, France; dImagine Institute, Paris Descartes University, 75015 Paris, France; eLaboratory of Protein and Nucleic Acid Chemistry, The Rockefeller University, New York, NY 10065; fPediatric Hematology, University Hospital of Marseille, 13005 Marseille, France; gManchester Centre for Genomic Medicine, Saint Mary’s Hospital, Manchester University Hospitals NHS Foundation Trust
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