| http://purl.uniprot.org/citations/20220065 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/20220065 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/20220065 | http://www.w3.org/2000/01/rdf-schema#comment | "Severe congenital neutropenia a clinically and genetically heterogeneous disorder. Mutations in different genes have been described as causative for severe neutropenia, e.g. ELANE, HAX1 and G6PC3. Although congenital neutropenia is considered to be a group of monogenic disorders, the phenotypic heterogeneity even within the yet defined genetic subtypes points to additional genetic and/or epigenetic influences on the disease phenotype. We describe congenital neutropenia patients with mutations in two candidate genes each, including 6 novel mutations. Two of them had a heterozygous ELANE mutation combined with a homozygous mutation in G6PC3 or HAX1, respectively. The other 2 patients combined homozygous or compound heterozygous mutations in G6PC3 or HAX1 with a heterozygous mutation in the respective other gene. Our results suggest that digenicity may underlie this disorder of myelopoiesis at least in some congenital neutropenia patients."xsd:string |
| http://purl.uniprot.org/citations/20220065 | http://purl.org/dc/terms/identifier | "doi:10.3324/haematol.2009.017665"xsd:string |
| http://purl.uniprot.org/citations/20220065 | http://purl.org/dc/terms/identifier | "doi:10.3324/haematol.2009.017665"xsd:string |
| http://purl.uniprot.org/citations/20220065 | http://purl.uniprot.org/core/author | "Stuhrmann M."xsd:string |
| http://purl.uniprot.org/citations/20220065 | http://purl.uniprot.org/core/author | "Stuhrmann M."xsd:string |
| http://purl.uniprot.org/citations/20220065 | http://purl.uniprot.org/core/author | "Welte K."xsd:string |
| http://purl.uniprot.org/citations/20220065 | http://purl.uniprot.org/core/author | "Welte K."xsd:string |
| http://purl.uniprot.org/citations/20220065 | http://purl.uniprot.org/core/author | "Germeshausen M."xsd:string |
| http://purl.uniprot.org/citations/20220065 | http://purl.uniprot.org/core/author | "Germeshausen M."xsd:string |
| http://purl.uniprot.org/citations/20220065 | http://purl.uniprot.org/core/author | "Zeidler C."xsd:string |
| http://purl.uniprot.org/citations/20220065 | http://purl.uniprot.org/core/author | "Zeidler C."xsd:string |
| http://purl.uniprot.org/citations/20220065 | http://purl.uniprot.org/core/author | "Ballmaier M."xsd:string |
| http://purl.uniprot.org/citations/20220065 | http://purl.uniprot.org/core/author | "Ballmaier M."xsd:string |
| http://purl.uniprot.org/citations/20220065 | http://purl.uniprot.org/core/author | "Lanciotti M."xsd:string |
| http://purl.uniprot.org/citations/20220065 | http://purl.uniprot.org/core/author | "Lanciotti M."xsd:string |
| http://purl.uniprot.org/citations/20220065 | http://purl.uniprot.org/core/date | "2010"xsd:gYear |
| http://purl.uniprot.org/citations/20220065 | http://purl.uniprot.org/core/date | "2010"xsd:gYear |
| http://purl.uniprot.org/citations/20220065 | http://purl.uniprot.org/core/name | "Haematologica"xsd:string |
| http://purl.uniprot.org/citations/20220065 | http://purl.uniprot.org/core/name | "Haematologica"xsd:string |
| http://purl.uniprot.org/citations/20220065 | http://purl.uniprot.org/core/pages | "1207-1210"xsd:string |
| http://purl.uniprot.org/citations/20220065 | http://purl.uniprot.org/core/pages | "1207-1210"xsd:string |
| http://purl.uniprot.org/citations/20220065 | http://purl.uniprot.org/core/title | "Digenic mutations in severe congenital neutropenia."xsd:string |
| http://purl.uniprot.org/citations/20220065 | http://purl.uniprot.org/core/title | "Digenic mutations in severe congenital neutropenia."xsd:string |