A novel splicing mutation of the α-spectrin gene in the original hereditary pyropoikilocytosis kindred

Hereditary pyropoikilocytosis (HPP) is a severe hemolytic anemia due to abnormalities of the red blood cell (RBC) membrane skeleton. In the original HPP kindred, there is compound heterozygosity for an allele encoding a structural variant of α-spectrin (L207P) and an α-spectrin allele associated wit...

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Main Authors: Costa, Daniel B., Lozovatsky, Larisa, Gallagher, Patrick G., Forget, Bernard G.
Formato: Artigo
Idioma:Inglês
Publicado em: © 2005 by The American Society of Hematology 2005
Assuntos:
Red Cells
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1895230/
https://ncbi.nlm.nih.gov/pubmed/16150946
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1182/blood-2005-05-1813
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