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

Isolated congenital asplenia (ICA) is the only known human developmental defect exclusively affecting a lymphoid organ. In 2013, we showed that private deleterious mutations in the protein-coding region of RPSA, encoding ribosomal protein SA, caused ICA by haploinsufficiency with complete penetrance...

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Manylion Llyfryddiaeth
Prif Awduron: Bolze, A, Boisson, B, Bosch, B, Antipenko, A, Bouaziz, M, Sackstein, P, Chaker-Margot, M, Barlogis, V, Briggs, T, Colino, E, Elmore, A, Fischer, A, Genel, F, Hewlett, A, Jedidi, M, Kelecic, J, Krüger, R, Ku, C, Kumararatne, D, Lefevre-Utile, A, Loughlin, S, Mahlaoui, N, Markus, S, Garcia, J, Nizon, M, Oleastro, M, Pac, M, Picard, C, Pollard, A, Rodriguez-Gallego, C, Thomas, C, Von Bernuth, H, Worth, A, Meyts, I, Risolino, M, Selleri, L, Puel, A, Klinge, S, Abel, L, Casanova, J
Fformat: Journal article
Iaith:English
Cyhoeddwyd: National Academy of Sciences 2018

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