β-spectrin(Bari): a truncated β-chain responsible for dominant hereditary spherocytosis

We describe a β-spectrin variant, named β-spectrin Bari, characterized by a truncated chain and associated with hereditary spherocytosis. The clinical phenotype consists of a moderately severe hemolytic anemia, splenomegaly, and spherocytes and acanthocytes in the blood smear. The occurrence of the...

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Hlavní autoři: Perrotta, Silverio, Della Ragione, Fulvio, Rossi, Francesca, Avvisati, Rosa Anna, Di Pinto, Daniela, De Mieri, Giovanna, Scianguetta, Saverio, Mancusi, Silvia, De Falco, Luigia, Marano, Vito, Iolascon, Achille
Médium: Artigo
Jazyk:Inglês
Vydáno: Ferrata Storti Foundation 2009
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Brief Reports
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC2791944/
https://ncbi.nlm.nih.gov/pubmed/19608679
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3324/haematol.2009.010124
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