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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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Main Authors: Edelman, E. Jennifer, Maksimova, Yelena, Duru, Feride, Altay, Cigdem, Gallagher, Patrick G.
Format: Artigo
Jezik:Inglês
Izdano: American Society of Hematology 2007
Teme:
Online dostop: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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