Article
Ankyrin-linked hereditary spherocytosis in an African-American kindred.
American journal of hematology - 1 Oct 2008
Sangerman Jose, Maksimova Yelena, Edelman E Jennifer, Morrow Jon S, Forget Bernard G, Gallagher Patrick G
Abstract excerpt
Mutations of ankyrin-1 are the most frequent cause of the inherited hemolytic anemia, hereditary spherocytosis (HS), in people of European ancestry. Ankyrin-1, which provides the primary linkage between the erythrocyte membrane skeleton and the plasma membrane, has numerous isoforms generated by alternative splicing, alternate polyadenylation, use of tissue-specific promoters, and alternate NH(2) or COOH-termini....
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