| http://purl.uniprot.org/citations/8364215 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/8364215 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/8364215 | http://www.w3.org/2000/01/rdf-schema#comment | "We present two Spanish children with hereditary elliptopoikilocytosis. The mother displayed a symptomless elliptocytosis. Spectrin maps showed the alpha I/50-46b abnormality in the mother and in the children. The change was more conspicuous in the children than in the mother. The father carried the alpha V/41 allele, which is a common allele endowed with low expression. The alpha V/41 allele was also present in the children accounting for the much more severe expression of the alpha I/50-46b variant. The responsible mutation yielding the latter appeared to be the alpha 469 His-->Pro substitution (CAT-->CCT), which is a novel abnormality. The corresponding spectrin was designated spectrin Barcelona. As is often the case in hereditary elliptocytosis or poikilocytosis related to alpha-spectrin variants, the change involved a helix 3; namely, helix 3 of repeating segment alpha 5."xsd:string |
| http://purl.uniprot.org/citations/8364215 | http://purl.uniprot.org/core/author | "Alloisio N."xsd:string |
| http://purl.uniprot.org/citations/8364215 | http://purl.uniprot.org/core/author | "Alloisio N."xsd:string |
| http://purl.uniprot.org/citations/8364215 | http://purl.uniprot.org/core/author | "Delaunay J."xsd:string |
| http://purl.uniprot.org/citations/8364215 | http://purl.uniprot.org/core/author | "Delaunay J."xsd:string |
| http://purl.uniprot.org/citations/8364215 | http://purl.uniprot.org/core/author | "Denoroy L."xsd:string |
| http://purl.uniprot.org/citations/8364215 | http://purl.uniprot.org/core/author | "Denoroy L."xsd:string |
| http://purl.uniprot.org/citations/8364215 | http://purl.uniprot.org/core/author | "Vives-Corrons J.L."xsd:string |
| http://purl.uniprot.org/citations/8364215 | http://purl.uniprot.org/core/author | "Vives-Corrons J.L."xsd:string |
| http://purl.uniprot.org/citations/8364215 | http://purl.uniprot.org/core/author | "Aymerich M."xsd:string |
| http://purl.uniprot.org/citations/8364215 | http://purl.uniprot.org/core/author | "Aymerich M."xsd:string |
| http://purl.uniprot.org/citations/8364215 | http://purl.uniprot.org/core/author | "Besalduch J."xsd:string |
| http://purl.uniprot.org/citations/8364215 | http://purl.uniprot.org/core/author | "Besalduch J."xsd:string |
| http://purl.uniprot.org/citations/8364215 | http://purl.uniprot.org/core/author | "Besson I."xsd:string |
| http://purl.uniprot.org/citations/8364215 | http://purl.uniprot.org/core/author | "Besson I."xsd:string |
| http://purl.uniprot.org/citations/8364215 | http://purl.uniprot.org/core/author | "Forissier A."xsd:string |
| http://purl.uniprot.org/citations/8364215 | http://purl.uniprot.org/core/author | "Forissier A."xsd:string |
| http://purl.uniprot.org/citations/8364215 | http://purl.uniprot.org/core/author | "dalla Venezia N."xsd:string |
| http://purl.uniprot.org/citations/8364215 | http://purl.uniprot.org/core/author | "dalla Venezia N."xsd:string |
| http://purl.uniprot.org/citations/8364215 | http://purl.uniprot.org/core/date | "1993"xsd:gYear |
| http://purl.uniprot.org/citations/8364215 | http://purl.uniprot.org/core/date | "1993"xsd:gYear |
| http://purl.uniprot.org/citations/8364215 | http://purl.uniprot.org/core/name | "Blood"xsd:string |
| http://purl.uniprot.org/citations/8364215 | http://purl.uniprot.org/core/name | "Blood"xsd:string |