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Two founder mutations in the SEC23B gene account for the relatively high frequency of CDA II in the Italian population
Congenital Dyserythropoietic Anemia type II is an autosomal recessive disorder characterized by unique abnormalities in the differentiation of cells of the erythroid lineage. The vast majority of CDA II cases result from mutations in the SEC23B gene. To date, 53 different causative mutations have be...
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| Asıl Yazarlar: | , , , , , , , , , , |
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| Materyal Türü: | Artigo |
| Dil: | Inglês |
| Baskı/Yayın Bilgisi: |
Wiley Subscription Services, Inc., A Wiley Company
2011
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| Konular: | |
| Online Erişim: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3258542/ https://ncbi.nlm.nih.gov/pubmed/21850656 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajh.22096 |
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