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A complex splicing defect associated with homozygous ankyrin-deficient hereditary spherocytosis
Defects in erythrocyte ankyrin are the most common cause of typical, dominant hereditary spherocytosis (HS). Detection of ankyrin gene mutations has been complicated by allelic heterogeneity, large gene size, frequent de novo mutations, and associated mRNA instability. Using denaturing high-performa...
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| Autors principals: | , , , , |
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| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
American Society of Hematology
2007
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1890827/ https://ncbi.nlm.nih.gov/pubmed/17327413 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1182/blood-2006-09-046573 |
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