| http://purl.uniprot.org/citations/8204896 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/8204896 | http://www.w3.org/2000/01/rdf-schema#comment | "Paroxysmal nocturnal hemoglobinuria (PNH) is an acquired clonal hematologic disorder that affects both sexes equally. The biochemical defect in PNH resides in the incomplete enzymatic assembly of glycosylphosphatidylinositol (GPI) anchors used for surface protein attachment. In all PNH patients tested to date, the biosynthetic defect occurs at the addition of N-acetyl-glucosamine to the phosphatidylinositol molecule (class A defect). A human cDNA, Piga, that repairs cell lines with the class A GPI-anchor biosynthetic defect has been recently cloned. Mapping of Piga to the X chromosome suggests that a single acquired mutation within Piga could alter GPI-anchor synthesis and result in PNH. However, this finding does not explain why all PNH patients have the class A defect. In the current study, the chromosomal assignment of Piga, as well as of Pigf and Pigh, two additional genes involved in GPI-anchor biosynthesis, has been established using a mouse interspecific backcross mapping technique. In contrast to Piga, both human and mouse Pigf and Pigh genes map to autosomes. The location of Pigf and Pigh suggests that mutations on both alleles of these autosomal genes would be necessary to produce PNH. This helps to explain the predominant class A defect in PNH."xsd:string |
| http://purl.uniprot.org/citations/8204896 | http://purl.uniprot.org/core/author | "Chang H.-M."xsd:string |
| http://purl.uniprot.org/citations/8204896 | http://purl.uniprot.org/core/author | "Seldin M.F."xsd:string |
| http://purl.uniprot.org/citations/8204896 | http://purl.uniprot.org/core/author | "Kamitani T."xsd:string |
| http://purl.uniprot.org/citations/8204896 | http://purl.uniprot.org/core/author | "Howard T.A."xsd:string |
| http://purl.uniprot.org/citations/8204896 | http://purl.uniprot.org/core/author | "Ware R.E."xsd:string |
| http://purl.uniprot.org/citations/8204896 | http://purl.uniprot.org/core/author | "Yeh E.T.H."xsd:string |
| http://purl.uniprot.org/citations/8204896 | http://purl.uniprot.org/core/date | "1994"xsd:gYear |
| http://purl.uniprot.org/citations/8204896 | http://purl.uniprot.org/core/name | "Blood"xsd:string |
| http://purl.uniprot.org/citations/8204896 | http://purl.uniprot.org/core/pages | "3753-3757"xsd:string |
| http://purl.uniprot.org/citations/8204896 | http://purl.uniprot.org/core/title | "Chromosomal assignment of genes involved in glycosylphosphatidylinositol anchor biosynthesis: implications for the pathogenesis of paroxysmal nocturnal hemoglobinuria."xsd:string |
| http://purl.uniprot.org/citations/8204896 | http://purl.uniprot.org/core/volume | "83"xsd:string |
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