Sequencing analysis of SEC23B gene in 13 CDAII patients from 10 families revealed 12 different mutations: six missense (c.40C&gt;T, c.325G&gt;A, c.1043A&gt;C, c.1489C&gt;T, c.1808C&gt;T, and c.2101C&gt;T), two frameshift (c.428_428delAinsCG and c.1821delT), one splicing (c.689+1G&gt;A), and three nonsense (c.568C&gt;T, c.649C&gt;T, and c.1660C&gt;T).
C1306589
Congenital dyserythropoietic anemia, type II