Associated Papers
Congenital dyserythropoietic anemia type II: molecular analysis and expression of the SEC23B gene.
Punzo F et al.
Orphanet Journal of Rare Diseases, 2011
Mutational spectrum in congenital dyserythropoietic anemia type II: identification of 19 novel variants in SEC23B gene.
Russo R et al.
American Journal of Hematology, 2010
Intracellular retention of mutant retinoschisin is the pathological mechanism underlying X-linked retinoschisis.
Wang T et al.
Human Molecular Genetics, 2002
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