Abstract
Hereditary stomatocytosis describes a wide spectrum of autosomal dominantly inherited hemolytic disorders in which the basal red cell membrane cation permeability is increased. In this perspective article, Drs. Flatt and Bruce summarize our current knowledge in the field. See related article on page 1049.
Publication types
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Comment
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Editorial
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Research Support, Non-U.S. Gov't
MeSH terms
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Amino Acid Sequence
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Amino Acid Substitution
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Anemia, Hemolytic, Congenital / blood*
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Anemia, Hemolytic, Congenital / genetics*
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Anemia, Hemolytic, Congenital / physiopathology
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Anion Exchange Protein 1, Erythrocyte / genetics
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Cell Membrane Permeability
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Erythrocyte Membrane / metabolism
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Erythrocytes, Abnormal / metabolism
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Humans
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Molecular Sequence Data
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Mutation
Substances
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Anion Exchange Protein 1, Erythrocyte
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SLC4A1 protein, human