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| http://purl.uniprot.org/citations/7104494 | http://www.w3.org/2000/01/rdf-schema#comment | "We have localized the molecular alteration in the membrane skeleton of two of four kindreds with hereditary spherocytosis (HS) to an alteration in the spectrin-protein-4.1 interaction due to a defective spectrin molecule. The defective spectrin-protein-4.1 interaction in these kindreds (referred to as type I HS) leads to a weakened spectrin-protein-4.1-actin ternary complex, which in turn may lead to the friable membrane skeleton and suggested membrane instability related to this disorder. Type I HS spectrin binds approximately 63% as much protein-4.1 as normal spectrin (with equal affinity). This defect does not correlate with splenic function or erythrocyte age in the circulation. However, the approximately 37% reduction in binding of protein-4.1 to HS spectrin approaches the theoretical value of 50% expected in this autosomal dominant disorder. All other type I membrane skeletal interactions (spectrin-syndein, spectrin heterodimer-heterodimer, syndein-band-3) were found to be normal. It would appear therefore that the defective HS spectrin-protein-4.1 interaction in type I hereditary spherocytosis may be the primary molecular defect rather than a secondary phenomena."xsd:string |
| http://purl.uniprot.org/citations/7104494 | http://purl.uniprot.org/core/author | "Goodman S.R."xsd:string |
| http://purl.uniprot.org/citations/7104494 | http://purl.uniprot.org/core/author | "Eyster M.E."xsd:string |
| http://purl.uniprot.org/citations/7104494 | http://purl.uniprot.org/core/author | "Casoria L.A."xsd:string |
| http://purl.uniprot.org/citations/7104494 | http://purl.uniprot.org/core/author | "Shiffer K.A."xsd:string |
| http://purl.uniprot.org/citations/7104494 | http://purl.uniprot.org/core/date | "1982"xsd:gYear |
| http://purl.uniprot.org/citations/7104494 | http://purl.uniprot.org/core/name | "Blood"xsd:string |
| http://purl.uniprot.org/citations/7104494 | http://purl.uniprot.org/core/pages | "772-784"xsd:string |
| http://purl.uniprot.org/citations/7104494 | http://purl.uniprot.org/core/title | "Identification of the molecular defect in the erythrocyte membrane skeleton of some kindreds with hereditary spherocytosis."xsd:string |
| http://purl.uniprot.org/citations/7104494 | http://purl.uniprot.org/core/volume | "60"xsd:string |
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