A genomic deletion causes truncation of α-spectrin and ellipto-poikilocytosis

Author:

Iolascon A.,King M.-J.,Robertson S.,Avvisati R.A.,Vitiello F.,Asci R.,Scoppettuolo M.N.,Delaunay J.

Funder

Italian Ministero dell' Università e della Ricerca

Telethon (Italy)

Regione Campania

Publisher

Elsevier BV

Subject

Cell Biology,Hematology,Molecular Biology,Molecular Medicine

Reference25 articles.

1. Hematologically important mutations: spectrin variants in hereditary elliptocytosis and hereditary pyropoikilocytosis;Gallagher;Blood Cells Mol. Dis.,1996

2. Structure of human erythrocyte spectrin;Speicher;J. Biol. Chem.,1983

3. The complete cDNA and polypeptide sequences of human erythroid a-spectrin;Sahr;J. Biol. Chem.,1990

4. Full length sequence of the cDNA for human erythroid-spectrin;Winkelmann;J. Biol. Chem.,1990

5. Mutations involving the spectrin heterodimer contact site: clinical expression and alteration in specific function;Delaunay;Semin. Hematol.,1993

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