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Compound heterozygosity for two novel mutations in the erythrocyte protein 4.2 gene causing spherocytosis in a Caucasian patient.

http://www.ncbi.nlm.nih.gov/pubmed/21275958

Pubmed ID: 21275958 RIS Download

Mesh terms: Base Sequence | Cytoskeletal Proteins | DNA Mutational Analysis | Female | Heterozygote | Humans | Infant | Male | Membrane Proteins | Molecular Sequence Data | Mutation | Spherocytosis, Hereditary