טוען...
Hypomorphic mutations of SEC23B gene account for mild phenotypes of congenital dyserythropoietic anemia type II
Congenital dyserythropoietic anemia type II, a recessive disorder of erythroid differentiation, is due to mutations in SEC23B, a component of the core trafficking machinery COPII. In no case homozygosity or compound heterozygosity for nonsense mutation(s) was found. This study represents the first d...
שמור ב:
| Main Authors: | , , , , , , , , |
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| פורמט: | Artigo |
| שפה: | Inglês |
| יצא לאור: |
Academic Press
2013
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| נושאים: | |
| גישה מקוונת: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3651933/ https://ncbi.nlm.nih.gov/pubmed/23453696 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.bcmd.2013.02.003 |
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