A 5' splice region G → C mutation in exon 3 of the human β-spectrin gene leads to decreased levels of β-spectrin mRNA and is responsible for dominant hereditary spherocytosis (spectrin Guemene-Penfao)

British Journal of Haematology

Volumn 100, Issue 1, 1998, Pages 90-98

  Garbarz, Michel ^a,c   Galand, Colette ^a   Bibas, Dominique ^a   Bournier, Odile ^a   Devaux, Isabelle ^a   Harousseau, Jean Luc ^b   Grandchamp, Bernard ^a   Dhermy, Didier ^a  

^a BICHAT HOSPITAL   (France)

^b NANTES UNIVERSITY HOSPITAL   (France)

^c INSERM   (France)

Author keywords

Hereditary spherocytosis; Splice mutation; spectrin gene

Indexed keywords

DNA; MEMBRANE PROTEIN; MESSENGER RNA; SPECTRIN;

ALLELE; ARTICLE; CLINICAL ARTICLE; ERYTHROCYTE DEFORMABILITY; FEMALE; GENE MUTATION; GENETIC LINKAGE; HEMOLYTIC ANEMIA; HEREDITARY SPHEROCYTOSIS; HUMAN; HUMAN CELL; MALE; PEDIGREE ANALYSIS; PRIORITY JOURNAL; RNA SPLICING; SPHEROCYTOSIS;

EID: 0031961757     PISSN: 00071048     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1365-2141.1998.00530.x     Document Type: Article

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