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Article: PMS2-related genes flank the rearrangement breakpoints associated with Williams syndrome and other diseases on human chromosome 7

TitlePMS2-related genes flank the rearrangement breakpoints associated with Williams syndrome and other diseases on human chromosome 7
Authors
Issue Date1997
PublisherAcademic Press. The Journal's web site is located at http://www.elsevier.com/locate/ygeno
Citation
Genomics, 1997, v. 45 n. 2, p. 402-406 How to Cite?
Abstract
The human PMS2 mismatch repair gene and a family of at least 17 other related genes (named human PMSR or PMS2L genes) have been localized to human chromosome 7. Human PMS2 has been mapped previously to 7p22 and shown to be causative in hereditary non-polyposis colon cancer (HNPCC), but the human PMS2L genes have not been positioned in the context of the physical or genetic map of chromosome 7. In this study we have used various mapping methodologies to determine the precise location of the human PMS2L genes at 7q11.22, 7q11.23, and 7q22. Within 7q11.23, human PMS2L genes were found to be present at at least three sites as part of duplicated genomic segments that flank the most common rearrangement break-points in Williams syndrome.
Persistent Identifierhttp://hdl.handle.net/10722/44321
ISSN
2013 Impact Factor: 2.793
ISI Accession Number ID
References

 

Author Affiliations
  1. University of Toronto
  2. Hospital for Sick Children University of Toronto
DC FieldValueLanguage
dc.contributor.authorOsborne, LRen_HK
dc.contributor.authorHerbrick, JAen_HK
dc.contributor.authorGreavette, Ten_HK
dc.contributor.authorHeng, HHQen_HK
dc.contributor.authorTsui, LCen_HK
dc.contributor.authorScherer, SWen_HK
dc.date.accessioned2007-09-12T03:51:21Z-
dc.date.available2007-09-12T03:51:21Z-
dc.date.issued1997en_HK
dc.identifier.citationGenomics, 1997, v. 45 n. 2, p. 402-406en_HK
dc.identifier.issn0888-7543en_HK
dc.identifier.urihttp://hdl.handle.net/10722/44321-
dc.description.abstractThe human PMS2 mismatch repair gene and a family of at least 17 other related genes (named human PMSR or PMS2L genes) have been localized to human chromosome 7. Human PMS2 has been mapped previously to 7p22 and shown to be causative in hereditary non-polyposis colon cancer (HNPCC), but the human PMS2L genes have not been positioned in the context of the physical or genetic map of chromosome 7. In this study we have used various mapping methodologies to determine the precise location of the human PMS2L genes at 7q11.22, 7q11.23, and 7q22. Within 7q11.23, human PMS2L genes were found to be present at at least three sites as part of duplicated genomic segments that flank the most common rearrangement break-points in Williams syndrome.en_HK
dc.languageengen_HK
dc.publisherAcademic Press. The Journal's web site is located at http://www.elsevier.com/locate/ygenoen_HK
dc.relation.ispartofGenomicsen_HK
dc.subject.meshAdenosinetriphosphataseen_HK
dc.subject.meshChromosomes, human, pair 7 - genetics - ultrastren_HK
dc.subject.meshDNA repair - geneticsen_HK
dc.subject.meshDNA repair enzymesen_HK
dc.subject.meshDNA-binding proteinsen_HK
dc.titlePMS2-related genes flank the rearrangement breakpoints associated with Williams syndrome and other diseases on human chromosome 7en_HK
dc.typeArticleen_HK
dc.identifier.openurlhttp://library.hku.hk:4550/resserv?sid=HKU:IR&issn=0888-7543&volume=45&issue=2&spage=402&epage=406&date=1997&atitle=PMS2-related+genes+flank+the+rearrangement+breakpoints+associated+with+Williams+syndrome+and+other+diseases+on+human+chromosome+7en_HK
dc.identifier.emailTsui, LC: tsuilc@hkucc.hku.hken_HK
dc.identifier.authorityTsui, LC=rp00058en_HK
dc.description.natureabstracten_HK
dc.identifier.doi10.1006/geno.1997.4923en_HK
dc.identifier.pmid9344666en_HK
dc.identifier.scopuseid_2-s2.0-0030667669en_HK
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-0030667669&selection=ref&src=s&origin=recordpageen_HK
dc.identifier.volume45en_HK
dc.identifier.issue2en_HK
dc.identifier.spage402en_HK
dc.identifier.epage406en_HK
dc.identifier.isiWOS:A1997YC79200023-
dc.publisher.placeUnited Statesen_HK
dc.identifier.scopusauthoridOsborne, LR=35369973100en_HK
dc.identifier.scopusauthoridHerbrick, JA=6602297751en_HK
dc.identifier.scopusauthoridGreavette, T=17834531900en_HK
dc.identifier.scopusauthoridHeng, HHQ=7005338076en_HK
dc.identifier.scopusauthoridTsui, LC=7102754167en_HK
dc.identifier.scopusauthoridScherer, SW=35374654500en_HK

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