title: Compound heterozygosity for two novel mutations in the erythrocyte protein 4.2 gene causing spherocytosis in a Caucasian patient.
authors.forename: Adrienne M
authors.initials: AM
authors.lastname: Hammill
authors.forename: Mary A
authors.initials: MA
authors.lastname: Risinger
authors.forename: Clinton H
authors.initials: CH
authors.lastname: Joiner
authors.forename: Mehdi
authors.initials: M
authors.lastname: Keddache
authors.forename: Theodosia A
authors.initials: TA
authors.lastname: Kalfa
mesh_terms: D001483:Base Sequence; D003598:Cytoskeletal Proteins / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D006579:Heterozygote; D006801:Humans; D007223:Infant; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D008969:Molecular Sequence Data; D009154:Mutation; D013103:Spherocytosis, Hereditary / Q000235:genetics*
chemical_list: D003598:Cytoskeletal Proteins; D008565:Membrane Proteins; C044791:erythrocyte membrane band 4.2 protein