Incomplete penetrance for isolated congenital asplenia in humans with mutations in translated and untranslated <i>RPSA</i> exons.

Bolze, Alexandre; Boisson, Bertrand; Bosch, Barbara; Antipenko, Alexander; Bouaziz, Matthieu; Sackstein, Paul; Chaker-Margot, Malik; Barlogis, Vincent; Briggs, Tracy; Colino, Elena; Elmore, Aurora C; Fischer, Alain; Genel, Ferah; Hewlett, Angela; Jedidi, Maher; Kelecic, Jadranka; Krüger, Renate; Ku, Cheng-Lung; Kumararatne, Dinakantha; Lefevre-Utile, Alain; Loughlin, Sam; Mahlaoui, Nizar; Markus, Susanne; Garcia, Juan-Miguel; Nizon, Mathilde; Oleastro, Matias; Pac, Malgorzata; Picard, Capucine; Pollard, Andrew J; Rodriguez-Gallego, Carlos; Thomas, Caroline; Von Bernuth, Horst; Worth, Austen; Meyts, Isabelle; Risolino, Maurizio; Selleri, Licia; Puel, Anne; Klinge, Sebastian; Abel, Laurent; Casanova, Jean-Laurent.
Proc Natl Acad Sci U S A; 115(34): E8007-E8016, 2018 08 21.
Artigo em Inglês | MEDLINE | ID: mdl-30072435