Matches in SemOpenAlex for { <https://semopenalex.org/work/W2603021572> ?p ?o ?g. }
Showing items 1 to 78 of
78
with 100 items per page.
- W2603021572 endingPage "161" @default.
- W2603021572 startingPage "161" @default.
- W2603021572 abstract "(The American Journal of Human Genetics, 86, 957–962; June 11, 2010) Richard Fisher should have appeared in the original author list for this paper with the affiliation noted here. The authors regret the omission. Loss-of-Function Mutations in HPSE2 Cause the Autosomal Recessive Urofacial SyndromePang et al.The American Journal of Human GeneticsJune 3, 2010In BriefPreviously, we localized the defective gene for the urofacial syndrome (UFS) to a region on chromosome 10q24 by homozygosity mapping. We now report evidence that Heparanse 2 (HPSE2) is the culprit gene for the syndrome. Mutations with a loss of function in the Heparanase 2 (HPSE2) gene were identified in all UFS patients originating from Colombia, the United States, and France. HPSE2 encodes a 592 aa protein that contains a domain showing sequence homology to the glycosyl hydrolase motif in the heparanase (HPSE) gene, but its exact biological function has not yet been characterized. Full-Text PDF Open Archive" @default.
- W2603021572 created "2017-04-07" @default.
- W2603021572 creator A5006818246 @default.
- W2603021572 creator A5008386585 @default.
- W2603021572 creator A5009729295 @default.
- W2603021572 creator A5016279165 @default.
- W2603021572 creator A5020137114 @default.
- W2603021572 creator A5021202946 @default.
- W2603021572 creator A5037736308 @default.
- W2603021572 creator A5063315817 @default.
- W2603021572 creator A5070538807 @default.
- W2603021572 creator A5071088845 @default.
- W2603021572 creator A5075460672 @default.
- W2603021572 creator A5077862629 @default.
- W2603021572 creator A5084939652 @default.
- W2603021572 creator A5087453912 @default.
- W2603021572 creator A5089519085 @default.
- W2603021572 date "2010-07-01" @default.
- W2603021572 modified "2023-10-17" @default.
- W2603021572 title "Loss-of-Function Mutations in HPSE2 Cause the Autosomal Recessive Urofacial Syndrome" @default.
- W2603021572 doi "https://doi.org/10.1016/j.ajhg.2010.06.014" @default.
- W2603021572 hasPublicationYear "2010" @default.
- W2603021572 type Work @default.
- W2603021572 sameAs 2603021572 @default.
- W2603021572 citedByCount "1" @default.
- W2603021572 countsByYear W26030215722019 @default.
- W2603021572 crossrefType "journal-article" @default.
- W2603021572 hasAuthorship W2603021572A5006818246 @default.
- W2603021572 hasAuthorship W2603021572A5008386585 @default.
- W2603021572 hasAuthorship W2603021572A5009729295 @default.
- W2603021572 hasAuthorship W2603021572A5016279165 @default.
- W2603021572 hasAuthorship W2603021572A5020137114 @default.
- W2603021572 hasAuthorship W2603021572A5021202946 @default.
- W2603021572 hasAuthorship W2603021572A5037736308 @default.
- W2603021572 hasAuthorship W2603021572A5063315817 @default.
- W2603021572 hasAuthorship W2603021572A5070538807 @default.
- W2603021572 hasAuthorship W2603021572A5071088845 @default.
- W2603021572 hasAuthorship W2603021572A5075460672 @default.
- W2603021572 hasAuthorship W2603021572A5077862629 @default.
- W2603021572 hasAuthorship W2603021572A5084939652 @default.
- W2603021572 hasAuthorship W2603021572A5087453912 @default.
- W2603021572 hasAuthorship W2603021572A5089519085 @default.
- W2603021572 hasBestOaLocation W26030215721 @default.
- W2603021572 hasConcept C104317684 @default.
- W2603021572 hasConcept C105951970 @default.
- W2603021572 hasConcept C127716648 @default.
- W2603021572 hasConcept C54355233 @default.
- W2603021572 hasConcept C84597430 @default.
- W2603021572 hasConcept C86803240 @default.
- W2603021572 hasConceptScore W2603021572C104317684 @default.
- W2603021572 hasConceptScore W2603021572C105951970 @default.
- W2603021572 hasConceptScore W2603021572C127716648 @default.
- W2603021572 hasConceptScore W2603021572C54355233 @default.
- W2603021572 hasConceptScore W2603021572C84597430 @default.
- W2603021572 hasConceptScore W2603021572C86803240 @default.
- W2603021572 hasIssue "1" @default.
- W2603021572 hasLocation W26030215721 @default.
- W2603021572 hasLocation W26030215722 @default.
- W2603021572 hasLocation W26030215723 @default.
- W2603021572 hasOpenAccess W2603021572 @default.
- W2603021572 hasPrimaryLocation W26030215721 @default.
- W2603021572 hasRelatedWork W1828691184 @default.
- W2603021572 hasRelatedWork W1886625688 @default.
- W2603021572 hasRelatedWork W2019037582 @default.
- W2603021572 hasRelatedWork W2028087115 @default.
- W2603021572 hasRelatedWork W2074557265 @default.
- W2603021572 hasRelatedWork W2082080217 @default.
- W2603021572 hasRelatedWork W2082451158 @default.
- W2603021572 hasRelatedWork W2104498991 @default.
- W2603021572 hasRelatedWork W2465559157 @default.
- W2603021572 hasRelatedWork W4233150668 @default.
- W2603021572 hasVolume "87" @default.
- W2603021572 isParatext "false" @default.
- W2603021572 isRetracted "false" @default.
- W2603021572 magId "2603021572" @default.
- W2603021572 workType "article" @default.