Garbarz, M

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] - Blood Apr 1990 - 1691-8 p. digital

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

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