Mutation of a highly conserved isoleucine disrupts hydrophobic interactions in the alpha beta spectrin self-association binding site. [electronic resource]
Producer: 20040324Description: 229-34 p. digitalISSN:- 0023-6837
- Binding Sites
- DNA Primers -- chemistry
- Elliptocytosis, Hereditary -- genetics
- Erythrocyte Membrane -- metabolism
- Female
- Heterozygote
- Humans
- Hydrophobic and Hydrophilic Interactions
- Hyperbilirubinemia
- Infant, Newborn
- Isoleucine -- blood
- Male
- Models, Molecular
- Pedigree
- Point Mutation
- Protein Conformation
- Sequence Analysis, DNA
- Spectrin -- chemistry
- Threonine -- genetics
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Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.
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