Matches in SemOpenAlex for { <https://semopenalex.org/work/W2022743959> ?p ?o ?g. }
Showing items 1 to 59 of
59
with 100 items per page.
- W2022743959 endingPage "620" @default.
- W2022743959 startingPage "620" @default.
- W2022743959 abstract "Researchers at Amsterdam's Academic Medical Center claim to have found the precise cause of Smith-Lemli-Opitz (SLO) syndrome, which affects between one in 20 000 and one in 40 000 babies, often resulting in multiple congenital abnormalities.Results published in the latest issue of the American Journal of Human Genetics (1998;63:329-38) show that SLO syndrome is caused by mutations in the gene coding of enzyme 7 dehydrocholesterol reductase (7-DHCR), which stimulates the biosynthesis of cholesterol, lacking in all patients with the syndrome.Researchers were able to identify …" @default.
- W2022743959 created "2016-06-24" @default.
- W2022743959 creator A5018111333 @default.
- W2022743959 date "1998-09-05" @default.
- W2022743959 modified "2023-09-25" @default.
- W2022743959 title "Precise cause of Smith-Lemli-Opitz syndrome found" @default.
- W2022743959 doi "https://doi.org/10.1136/bmj.317.7159.620a" @default.
- W2022743959 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/1174676" @default.
- W2022743959 hasPublicationYear "1998" @default.
- W2022743959 type Work @default.
- W2022743959 sameAs 2022743959 @default.
- W2022743959 citedByCount "0" @default.
- W2022743959 crossrefType "journal-article" @default.
- W2022743959 hasAuthorship W2022743959A5018111333 @default.
- W2022743959 hasBestOaLocation W20227439592 @default.
- W2022743959 hasConcept C104788683 @default.
- W2022743959 hasConcept C134651460 @default.
- W2022743959 hasConcept C136764020 @default.
- W2022743959 hasConcept C181199279 @default.
- W2022743959 hasConcept C2522767166 @default.
- W2022743959 hasConcept C2780716534 @default.
- W2022743959 hasConcept C41008148 @default.
- W2022743959 hasConcept C55493867 @default.
- W2022743959 hasConcept C60644358 @default.
- W2022743959 hasConcept C71924100 @default.
- W2022743959 hasConcept C86803240 @default.
- W2022743959 hasConceptScore W2022743959C104788683 @default.
- W2022743959 hasConceptScore W2022743959C134651460 @default.
- W2022743959 hasConceptScore W2022743959C136764020 @default.
- W2022743959 hasConceptScore W2022743959C181199279 @default.
- W2022743959 hasConceptScore W2022743959C2522767166 @default.
- W2022743959 hasConceptScore W2022743959C2780716534 @default.
- W2022743959 hasConceptScore W2022743959C41008148 @default.
- W2022743959 hasConceptScore W2022743959C55493867 @default.
- W2022743959 hasConceptScore W2022743959C60644358 @default.
- W2022743959 hasConceptScore W2022743959C71924100 @default.
- W2022743959 hasConceptScore W2022743959C86803240 @default.
- W2022743959 hasIssue "7159" @default.
- W2022743959 hasLocation W20227439591 @default.
- W2022743959 hasLocation W20227439592 @default.
- W2022743959 hasOpenAccess W2022743959 @default.
- W2022743959 hasPrimaryLocation W20227439591 @default.
- W2022743959 hasRelatedWork W1506282065 @default.
- W2022743959 hasRelatedWork W1507112395 @default.
- W2022743959 hasRelatedWork W1996408511 @default.
- W2022743959 hasRelatedWork W2323581027 @default.
- W2022743959 hasRelatedWork W2351790455 @default.
- W2022743959 hasRelatedWork W2570974996 @default.
- W2022743959 hasRelatedWork W2748952813 @default.
- W2022743959 hasRelatedWork W2752793062 @default.
- W2022743959 hasRelatedWork W2899084033 @default.
- W2022743959 hasRelatedWork W4247880953 @default.
- W2022743959 hasVolume "317" @default.
- W2022743959 isParatext "false" @default.
- W2022743959 isRetracted "false" @default.
- W2022743959 magId "2022743959" @default.
- W2022743959 workType "article" @default.