| http://purl.uniprot.org/citations/14617022 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/14617022 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/14617022 | http://www.w3.org/2000/01/rdf-schema#comment | "Pelger-Huët anomaly is an inherited abnormality of neutrophils, characterized by reduced nuclear segmentation and an apparently looser chromatin structure. Following linkage studies in two families, the lamin B-receptor (LBR) was sequenced and mutations found: CCG-->CTG causing proline-->leucine in codon 119 of exon 3, and IVS11-9 A-->G, disrupting the splice acceptor site. The LBR gene (LBR) was also sequenced from a single English man with Pelger-Huët anomaly and a heterozygous C-->G mutation was found in codon 569 of exon 14, predicted to cause a proline-->arginine. Our results confirm recently published findings that LBR mutations cause Pelger-Huët."xsd:string |
| http://purl.uniprot.org/citations/14617022 | http://purl.org/dc/terms/identifier | "doi:10.1046/j.1365-2141.2003.04621.x"xsd:string |
| http://purl.uniprot.org/citations/14617022 | http://purl.org/dc/terms/identifier | "doi:10.1046/j.1365-2141.2003.04621.x"xsd:string |
| http://purl.uniprot.org/citations/14617022 | http://purl.uniprot.org/core/author | "Rees D.C."xsd:string |
| http://purl.uniprot.org/citations/14617022 | http://purl.uniprot.org/core/author | "Rees D.C."xsd:string |
| http://purl.uniprot.org/citations/14617022 | http://purl.uniprot.org/core/author | "Thein S.L."xsd:string |
| http://purl.uniprot.org/citations/14617022 | http://purl.uniprot.org/core/author | "Thein S.L."xsd:string |
| http://purl.uniprot.org/citations/14617022 | http://purl.uniprot.org/core/author | "Best S."xsd:string |
| http://purl.uniprot.org/citations/14617022 | http://purl.uniprot.org/core/author | "Best S."xsd:string |
| http://purl.uniprot.org/citations/14617022 | http://purl.uniprot.org/core/author | "Garner C."xsd:string |
| http://purl.uniprot.org/citations/14617022 | http://purl.uniprot.org/core/author | "Garner C."xsd:string |
| http://purl.uniprot.org/citations/14617022 | http://purl.uniprot.org/core/author | "Height S."xsd:string |
| http://purl.uniprot.org/citations/14617022 | http://purl.uniprot.org/core/author | "Height S."xsd:string |
| http://purl.uniprot.org/citations/14617022 | http://purl.uniprot.org/core/author | "Kallo J."xsd:string |
| http://purl.uniprot.org/citations/14617022 | http://purl.uniprot.org/core/author | "Kallo J."xsd:string |
| http://purl.uniprot.org/citations/14617022 | http://purl.uniprot.org/core/author | "Salvati F."xsd:string |
| http://purl.uniprot.org/citations/14617022 | http://purl.uniprot.org/core/author | "Salvati F."xsd:string |
| http://purl.uniprot.org/citations/14617022 | http://purl.uniprot.org/core/date | "2003"xsd:gYear |
| http://purl.uniprot.org/citations/14617022 | http://purl.uniprot.org/core/date | "2003"xsd:gYear |
| http://purl.uniprot.org/citations/14617022 | http://purl.uniprot.org/core/name | "Br. J. Haematol."xsd:string |
| http://purl.uniprot.org/citations/14617022 | http://purl.uniprot.org/core/name | "Br. J. Haematol."xsd:string |
| http://purl.uniprot.org/citations/14617022 | http://purl.uniprot.org/core/pages | "542-544"xsd:string |
| http://purl.uniprot.org/citations/14617022 | http://purl.uniprot.org/core/pages | "542-544"xsd:string |