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The COPII pathway and hematologic disease

15 May 2012

Abstract excerpt

Multiple diseases, hematologic and nonhematologic, result from defects in the early secretory pathway. Congenital dyserythropoietic anemia type II (CDAII) and combined deficiency of coagulation factors V and VIII (F5F8D) are the 2 known hematologic diseases that result from defects in the endoplasmic reticulum (ER)-to-Golgi transport system. CDAII is caused by mutations in the SEC23B gene, which encodes a core...

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PMID: 22586181
DOI: 10.1182/blood-2012-01-292086

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