About: Assignment of the gene locus for severe congenital neutropenia to chromosome 1q22 in the original Kostmann family from Northern Sweden

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About: Assignment of the gene locus for severe congenital neutropenia to chromosome 1q22 in the original Kostmann family from Northern Sweden Goto Sponge NotDistinct Permalink

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scientific article published on 20 December 2006

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rdf:type	Item
description	videnskabelig artikel (da) article científic (ca) articolo scientifico (it) artigo científico (pt) bilimsel makale (tr) vedecký článok (sk) vetenskaplig artikel (sv) vědecký článek (cs) wetenschappelijk artikel (nl) wissenschaftlicher Artikel (de) научни чланак (sr) article scientifique (fr) artículu científicu espublizáu en 2006 (ast) наукова стаття, опублікована в грудні 2006 (uk) scientific article published on 20 December 2006 (en) مقالة علمية نشرت في 20 ديسمبر 2006 (ar)
publication date	wds:Q37292153-0517A0B1-EFC9-4F2F-96F1-994E462AABA0
publication date	2006-12-20 00:00:00Z (xsd:dateTime)
language of work or name	wds:Q37292153-C4195611-BB35-440C-A5F8-77AAEBEECB7C
language of work or name	English
cites work	wds:Q37292153-0D2C074B-AEBE-4BEB-837B-8D75526FE50D wds:Q37292153-0D3C3A1A-F04D-4FB7-80B1-175B40E05643 wds:Q37292153-18FFA1F3-D136-44B7-AED8-DBB2048D9D18 wds:Q37292153-1A5DF53E-F83D-4F72-A611-D93DFEFEBD62 wds:Q37292153-1A75332A-45E1-41E7-893F-13BF07C1006B wds:Q37292153-2EC7FBA4-A731-49ED-9A69-7AFFF153339F wds:Q37292153-36F21252-A797-47DF-AD0C-62A3F4308306 wds:Q37292153-3E86CAD0-6755-4025-A52E-D9ED81936723 wds:Q37292153-478CECD7-D076-4E6D-BDC2-80960B96A55F wds:Q37292153-4AE02CF5-3ADF-4D45-BEBF-81FFDF97F8C5 wds:Q37292153-5974694D-928D-463E-85B7-36C15524AEC3 wds:Q37292153-65627386-65D8-4624-88C5-E1AF422DC2A1 wds:Q37292153-663EEAAD-6197-4BCC-BB37-F67A82C0B172 wds:Q37292153-6A58DC83-33FD-4439-9152-4E57A8F6B805 wds:Q37292153-6B662FDF-DC3D-4856-B562-298BE0B9E2AB wds:Q37292153-896D36A5-62AC-4C09-B68C-BFCDBF63F072 wds:Q37292153-9F4C5E2C-68DE-4D72-B484-F8DF9DB141A3 wds:Q37292153-AE813B54-9B1D-442C-B5A2-C379FD4CD78F wds:Q37292153-C1E22EAC-93DE-4148-84EF-6A654983BF23 wds:Q37292153-C82E6CA3-5096-4622-AF64-27A69EE41C29 wds:Q37292153-D0790553-C4DD-41CB-BC61-2BFC79524BF9 wds:Q37292153-E18E3424-4EC8-4F2A-B706-8F9E24AE35CA wds:Q37292153-E2E0CEFC-63DD-4CA9-B4A6-709AAEA3473C
cites work	Differential effects of granulocyte-macrophage colony-stimulating factor and granulocyte colony-stimulating factor in children with severe congenital neutropenia Long-term safety of treatment with recombinant human granulocyte colony-stimulating factor (r-metHuG-CSF) in patients with severe congenital neutropenias Genomewide linkage searches for Mendelian disease loci can be efficiently conducted using high-density SNP genotyping arrays Homozygosity mapping with SNP arrays identifies TRIM32, an E3 ubiquitin ligase, as a Bardet-Biedl syndrome gene (BBS11) Mapping of sudden infant death with dysgenesis of the testes syndrome (SIDDT) by a SNP genome scan and identification of TSPYL loss of function Initial sequencing and analysis of the human genome Mutations in proto-oncogene GFI1 cause human neutropenia and target ELA2 Infantile genetic agranulocytosis; agranulocytosis infantilis hereditaria Mutations in the gene encoding neutrophil elastase in congenital and cyclic neutropenia Kostmann syndrome: severe congenital neutropenia associated with defective expression of Bcl-2, constitutive mitochondrial release of cytochrome c, and excessive apoptosis of myeloid progenitor cells The diastrophic dysplasia gene encodes a novel sulfate transporter: positional cloning by fine-structure linkage disequilibrium mapping A HOX gene mutation in a family with isolated congenital vertical talus and Charcot-Marie-Tooth disease Infantile genetic agranulocytosis. A review with presentation of ten new cases The use of a genetic map of biallelic markers in linkage studies Deficiency of antibacterial peptides in patients with morbus Kostmann: an observation study. Characteristics of genetic markers and maps for cost-effective genome screens using diallelic markers Filgrastim (r-metHuG-CSF): the first 10 years. Infantile genetic agranulocytosis, morbus Kostmann: presentation of six cases from the original "Kostmann family" and a review Mutations in the ELA2 gene encoding neutrophil elastase are present in most patients with sporadic severe congenital neutropenia but only in some patients with the familial form of the disease Assignment of the locus for ichthyosis prematurity syndrome to chromosome 9q33.3-34.13. A founder mutation for ichthyosis prematurity syndrome restricted to 76 kb by haplotype association Strong evidence for autosomal dominant inheritance of severe congenital neutropenia associated with ELA2 mutations. Neutrophil elastase and granulocyte colony-stimulating factor receptor mutation analyses and leukemia evolution in severe congenital neutropenia patients belonging to the original Kostmann family in northern Sweden
author name string	wds:Q37292153-3775B54A-AC87-4B98-A5D7-08E1332EF8A0 wds:Q37292153-3CB78B9D-7E2B-4612-A83C-F52DBF58E579 wds:Q37292153-3E587B82-43F7-4E68-A54C-C98B865D92F1 wds:Q37292153-589F02B0-0760-49CF-A0D4-29B5C39C0489 wds:Q37292153-7E7F3D6D-5963-4BB2-9F0E-8D36C6B5AB21 wds:Q37292153-C46AE69F-CB5A-4736-9591-FC26ACABC93B wds:Q37292153-C84CFF7C-7CC6-4A67-A0E3-D3C81089A184
author name string	C Klein N Dahl G Carlsson M Entesarian M Melin J I Henter D Garwicz
rdfs:label	Assignment of the gene locus for severe congenital neutropenia to chromosome 1q22 in the original Kostmann family from Northern Sweden (en) Assignment of the gene locus for severe congenital neutropenia to chromosome 1q22 in the original Kostmann family from Northern Sweden (nl) Assignment of the gene locus for severe congenital neutropenia to chromosome 1q22 in the original Kostmann family from Northern Sweden (ast)
skos:prefLabel	Assignment of the gene locus for severe congenital neutropenia to chromosome 1q22 in the original Kostmann family from Northern Sweden (en) Assignment of the gene locus for severe congenital neutropenia to chromosome 1q22 in the original Kostmann family from Northern Sweden (nl) Assignment of the gene locus for severe congenital neutropenia to chromosome 1q22 in the original Kostmann family from Northern Sweden (ast)
name	Assignment of the gene locus for severe congenital neutropenia to chromosome 1q22 in the original Kostmann family from Northern Sweden (en) Assignment of the gene locus for severe congenital neutropenia to chromosome 1q22 in the original Kostmann family from Northern Sweden (nl) Assignment of the gene locus for severe congenital neutropenia to chromosome 1q22 in the original Kostmann family from Northern Sweden (ast)
author	wds:Q37292153-1586D946-8B74-4DDB-AD48-69297C78916B wds:Q37292153-49EBD512-AFE9-41FF-964B-AF88800BFA9C wds:Q37292153-BBB88BF0-1863-49FA-B089-7775B946C320
author	Bengt Fadeel Magnus Nordenskjöld Jan Palmblad
title	wds:Q37292153-20DBD882-0B94-4C46-8D48-80F818103C66
title	Assignment of the gene locus for severe congenital neutropenia to chromosome 1q22 in the original Kostmann family from Northern Sweden (en)
page(s)	wds:Q37292153-D15DAAC9-FBA1-4F94-B317-B7AA0D0C1F6A
page(s)	571-575

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