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A Complex Splicing Defect Associated With Homozygous Ankyrin-Deficient Hereditary Spherocytosis
(Amer Soc Hematology, 2007)
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 ...