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dc.contributor.authorGlaser, R.L.
dc.contributor.authorRamsay, Josh
dc.contributor.authorMorison, I.M.
dc.date.accessioned2020-03-04T02:27:51Z
dc.date.available2020-03-04T02:27:51Z
dc.date.issued2006
dc.identifier.citationGlaser, R.L. and Ramsay, J.P. and Morison, I.M. 2006. The imprinted gene and parent-of-origin effect database now includes parental origin of de novo mutations. Nucleic acids research. 34 (Database issue): pp. D29-D31.
dc.identifier.urihttp://hdl.handle.net/20.500.11937/78107
dc.identifier.doi10.1093/nar/gkj101
dc.description.abstract

The imprinted gene and parent-of-origin effect database (www.otago.ac.nz/IGC) consists of two sections. One section catalogues the current literature on imprinted genes in humans and animals. The second, and new, section catalogues current reports of parental origin of de novo mutations in humans alone. The addition of a catalogue of de novo mutations that show a parent-of-origin effect expands the scope of the database and provides a useful tool for examining parental origin trends for different types of spontaneous mutations. This new section includes >1700 mutations, found in 59 different disorders. The 85 imprinted genes are described in 152 entries from several mammalian species. In addition, >300 other entries describe a range of reported parent-of-origin effects in animals.

dc.languageEnglish
dc.publisherOXFORD UNIV PRESS
dc.relation.urihttps://academic.oup.com/nar/article/34/suppl_1/D29/1133376
dc.subjectScience & Technology
dc.subjectLife Sciences & Biomedicine
dc.subjectBiochemistry & Molecular Biology
dc.subjectHUTCHINSON-GILFORD PROGERIA
dc.subjectPATERNAL ORIGIN
dc.subjectRETT-SYNDROME
dc.subjectMECP2 MUTATIONS
dc.subjectCHROMOSOME
dc.subjectHUMANS
dc.titleThe imprinted gene and parent-of-origin effect database now includes parental origin of de novo mutations.
dc.typeJournal Article
dcterms.source.volume34
dcterms.source.numberDatabase issue
dcterms.source.startPageD29
dcterms.source.endPageD31
dcterms.source.issn0305-1048
dcterms.source.titleNucleic acids research
dc.date.updated2020-03-04T02:27:51Z
curtin.departmentSchool of Pharmacy and Biomedical Sciences
curtin.accessStatusOpen access via publisher
curtin.facultyFaculty of Health Sciences
curtin.contributor.orcidRamsay, Josh [0000-0002-1301-7077]
dcterms.source.eissn1362-4962
curtin.contributor.scopusauthoridRamsay, Josh [8529700000]


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