Incomplete penetrance for isolated congenital asplenia in humans with mutations in translated and untranslated RPSA exons
患有翻译和非翻译 RPSA 外显子突变的人类孤立性先天性无脾症的不完全外显率
期刊:Proceedings of the National Academy of Sciences of the United States of America
影响因子:
doi:10.1073/pnas.1805437115
Alexandre Bolze, Bertrand Boisson, Barbara Bosch, Alexander Antipenko, Matthieu Bouaziz, Paul Sackstein, Malik Chaker-Margot, Vincent Barlogis, Tracy Briggs, Elena Colino, Aurora C Elmore, Alain Fischer, Ferah Genel, Angela Hewlett, Maher Jedidi, Jadranka Kelecic, Renate Krüger, Cheng-Lung Ku, Dinak
