Hereditary pyropoikilocytosis and elliptocytosis in a white French family with the spectrin alpha I/74 variant related to a CGT to CAT codon change (Arg to His) at position 22 of the spectrin alpha I domain. [electronic resource]
Producer: 19900525Description: 1691-8 p. digitalISSN:- 0006-4971
- Adult
- Aged
- Alleles
- Amino Acid Sequence
- Anemia, Hemolytic, Congenital -- genetics
- Base Sequence
- Codon -- genetics
- DNA -- analysis
- Elliptocytosis, Hereditary -- genetics
- Erythrocyte Count
- Erythrocyte Deformability
- Erythrocyte Membrane -- analysis
- Female
- Genetic Variation
- Humans
- Male
- Membrane Proteins -- analysis
- Middle Aged
- Molecular Sequence Data
- Oligonucleotides -- genetics
- Pedigree
- Polymerase Chain Reaction
- RNA, Messenger -- genetics
- Spectrin -- genetics
- Trypsin -- pharmacology
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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