Matches in SemOpenAlex for { <https://semopenalex.org/work/W2414470740> ?p ?o ?g. }
Showing items 1 to 56 of
56
with 100 items per page.
- W2414470740 endingPage "5" @default.
- W2414470740 startingPage "661" @default.
- W2414470740 abstract "There is an increasing interest on one of the smallest human chromosomes as it is shown by the First International Symposium on the Human Chromosome 20 and by the genetic map prepared by EUROGEN. The conserved part of the long arm of human chromosome 20 is synthenic with the distal part of the mouse chromosome 2 allowing for some analogies between them. Human chromosome 20 contains several important genes for the human pathology. Mutations of one of them, the vasopressin-neurophysin II gene, are responsible for hereditary neurohypophyseal diabetes insipidus. Severe combined immunodeficiency due to adenosin deaminase deficiency is the first human disorder successfully treated by somatic gene therapy. Spongiform encephalopathies are related to mutation and/or polymorphisms of the PRNP amyloid gene. One form of benign familiar neonatal convulsions is mapped to a specific locus on chromosome 20. In some families, maturity onset diabetes of the young (MODY) is caused by alterations of a hypothetical gene closely linked to the ADA locus. Allegile syndrome is often associated with deletions and microdeletions of the short arm of the chromosome. Finally, deletions of the long arm of the chromosome is a frequent finding in several hematologic malignities, specifically in myeloproliferative disorders and myelodysplastic syndromes." @default.
- W2414470740 created "2016-06-24" @default.
- W2414470740 creator A5071286258 @default.
- W2414470740 date "1995-10-18" @default.
- W2414470740 modified "2023-09-23" @default.
- W2414470740 title "[The human genome--chromosome 20]." @default.
- W2414470740 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/7489583" @default.
- W2414470740 hasPublicationYear "1995" @default.
- W2414470740 type Work @default.
- W2414470740 sameAs 2414470740 @default.
- W2414470740 citedByCount "0" @default.
- W2414470740 crossrefType "journal-article" @default.
- W2414470740 hasAuthorship W2414470740A5071286258 @default.
- W2414470740 hasConcept C104317684 @default.
- W2414470740 hasConcept C109748351 @default.
- W2414470740 hasConcept C130693829 @default.
- W2414470740 hasConcept C137555145 @default.
- W2414470740 hasConcept C157717039 @default.
- W2414470740 hasConcept C165237769 @default.
- W2414470740 hasConcept C30481170 @default.
- W2414470740 hasConcept C54355233 @default.
- W2414470740 hasConcept C54815482 @default.
- W2414470740 hasConcept C84597430 @default.
- W2414470740 hasConcept C86803240 @default.
- W2414470740 hasConceptScore W2414470740C104317684 @default.
- W2414470740 hasConceptScore W2414470740C109748351 @default.
- W2414470740 hasConceptScore W2414470740C130693829 @default.
- W2414470740 hasConceptScore W2414470740C137555145 @default.
- W2414470740 hasConceptScore W2414470740C157717039 @default.
- W2414470740 hasConceptScore W2414470740C165237769 @default.
- W2414470740 hasConceptScore W2414470740C30481170 @default.
- W2414470740 hasConceptScore W2414470740C54355233 @default.
- W2414470740 hasConceptScore W2414470740C54815482 @default.
- W2414470740 hasConceptScore W2414470740C84597430 @default.
- W2414470740 hasConceptScore W2414470740C86803240 @default.
- W2414470740 hasIssue "20" @default.
- W2414470740 hasLocation W24144707401 @default.
- W2414470740 hasOpenAccess W2414470740 @default.
- W2414470740 hasPrimaryLocation W24144707401 @default.
- W2414470740 hasRelatedWork W1969450103 @default.
- W2414470740 hasRelatedWork W2003150774 @default.
- W2414470740 hasRelatedWork W2016691288 @default.
- W2414470740 hasRelatedWork W2020644789 @default.
- W2414470740 hasRelatedWork W2042214586 @default.
- W2414470740 hasRelatedWork W2061613459 @default.
- W2414470740 hasRelatedWork W2088274488 @default.
- W2414470740 hasRelatedWork W2131291771 @default.
- W2414470740 hasRelatedWork W2414470740 @default.
- W2414470740 hasRelatedWork W61472977 @default.
- W2414470740 hasVolume "134" @default.
- W2414470740 isParatext "false" @default.
- W2414470740 isRetracted "false" @default.
- W2414470740 magId "2414470740" @default.
- W2414470740 workType "article" @default.