http://purl.uniprot.org/citations/1303276 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
http://purl.uniprot.org/citations/1303276 | http://www.w3.org/2000/01/rdf-schema#comment | "Prader-Willi syndrome (PWS) is associated with paternal gene deficiencies in human chromosome 15q11-13, suggesting that PWS is caused by a deficiency in one or more maternally imprinted genes. We have now mapped a gene, Snrpn, encoding a brain-enriched small nuclear ribonucleoprotein (snRNP)-associated polypeptide SmN, to mouse chromosome 7 in a region of homology with human chromosome 15q11-13 and demonstrated that Snrpn is a maternally imprinted gene in mouse. These studies, in combination with the accompanying human mapping studies showing that SNRPN maps in the Prader-Willi critical region, identify SNRPN as a candidate gene involved in PWS and suggest that PWS may be caused, in part, by defects in mRNA processing."xsd:string |
http://purl.uniprot.org/citations/1303276 | http://purl.org/dc/terms/identifier | "doi:10.1038/ng1292-259"xsd:string |
http://purl.uniprot.org/citations/1303276 | http://purl.uniprot.org/core/author | "Copeland N.G."xsd:string |
http://purl.uniprot.org/citations/1303276 | http://purl.uniprot.org/core/author | "Francke U."xsd:string |
http://purl.uniprot.org/citations/1303276 | http://purl.uniprot.org/core/author | "Jenkins N.A."xsd:string |
http://purl.uniprot.org/citations/1303276 | http://purl.uniprot.org/core/author | "Ozcelik T."xsd:string |
http://purl.uniprot.org/citations/1303276 | http://purl.uniprot.org/core/author | "Leff S.E."xsd:string |
http://purl.uniprot.org/citations/1303276 | http://purl.uniprot.org/core/author | "Brannan C.I."xsd:string |
http://purl.uniprot.org/citations/1303276 | http://purl.uniprot.org/core/author | "Reed M.L."xsd:string |
http://purl.uniprot.org/citations/1303276 | http://purl.uniprot.org/core/date | "1992"xsd:gYear |
http://purl.uniprot.org/citations/1303276 | http://purl.uniprot.org/core/name | "Nat Genet"xsd:string |
http://purl.uniprot.org/citations/1303276 | http://purl.uniprot.org/core/pages | "259-264"xsd:string |
http://purl.uniprot.org/citations/1303276 | http://purl.uniprot.org/core/title | "Maternal imprinting of the mouse Snrpn gene and conserved linkage homology with the human Prader-Willi syndrome region."xsd:string |
http://purl.uniprot.org/citations/1303276 | http://purl.uniprot.org/core/volume | "2"xsd:string |
http://purl.uniprot.org/citations/1303276 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/1303276 |
http://purl.uniprot.org/citations/1303276 | http://xmlns.com/foaf/0.1/primaryTopicOf | https://pubmed.ncbi.nlm.nih.gov/1303276 |
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