Hereditary spherocytosis with spectrin deficiency due to an unstable truncated beta spectrin.

Hassoun, H; Vassiliadis, J N; Murray, J; Yi, S J; Hanspal, M; Johnson, C A; Palek, J

Hassoun, H; Vassiliadis, J N; Murray, J; Yi, S J; Hanspal, M; Johnson, C A; Palek, J.

Affiliation

Hassoun H; Department of Biomedical Research, St. Elizabeth's Hospital of Boston, MA, 02135 USA.

Blood ; 87(6): 2538-45, 1996 Mar 15.

Article in En | MEDLINE | ID: mdl-8630421

Subject(s)

Point Mutation; Spectrin/deficiency; Spherocytosis, Hereditary/genetics; Base Sequence; Child, Preschool; Cytoplasm/metabolism; DNA Mutational Analysis; Electrophoresis, Polyacrylamide Gel; Endopeptidases; Erythrocyte Membrane/chemistry; Erythroid Precursor Cells/metabolism; Exons/genetics; Humans; Introns/genetics; Male; Molecular Sequence Data; RNA Splicing; RNA, Messenger/biosynthesis; RNA, Messenger/genetics; Reticulocytes/metabolism; Spectrin/genetics

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Collection: 01-internacional Database: MEDLINE Main subject: Spherocytosis, Hereditary / Spectrin / Point Mutation Limits: Child, preschool / Humans / Male Language: En Journal: Blood Year: 1996 Document type: Article

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