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Screening for steroid sulfatase (STS) gene deletions by multiplex DNA amplification
dc.contributor.authorCaskey, C. Thomasen_US
dc.contributor.authorRanier, Joel E.en_US
dc.contributor.authorBallabio, Andreaen_US
dc.contributor.authorChamberlain, Jeffrey S.en_US
dc.contributor.authorZollo, Massimoen_US
dc.date.accessioned2006-09-11T19:12:23Z
dc.date.available2006-09-11T19:12:23Z
dc.date.issued1990-05en_US
dc.identifier.citationBallabio, Andrea; Ranier, Joel E.; Chamberlain, Jeffrey S.; Zollo, Massimo; Caskey, C. Thomas; (1990). "Screening for steroid sulfatase (STS) gene deletions by multiplex DNA amplification." Human Genetics 84(6): 571-573. <http://hdl.handle.net/2027.42/47626>en_US
dc.identifier.issn1432-1203en_US
dc.identifier.issn0340-6717en_US
dc.identifier.urihttps://hdl.handle.net/2027.42/47626
dc.identifier.urihttp://www.ncbi.nlm.nih.gov/sites/entrez?cmd=retrieve&db=pubmed&list_uids=2338343&dopt=citationen_US
dc.description.abstractDeletions are the most common molecular defect in steroid sulfatase (STS) deficiency. We describe the application of multiplex DNA amplification, by polymerase chain reaction, for deletion screening in patients with STS deficiency (STS-PCR). Genomic DNA from 38 unrelated patients was amplified using two sets of primers, corresponding to the 5′ and the 3′ ends of the STS gene. The analysis of the amplified products was always consistent with the results obtained by Southern analysis. This method represents a sensitive fast non-radioactive test for detecting STS gene deletions.en_US
dc.format.extent395089 bytes
dc.format.extent3115 bytes
dc.format.mimetypeapplication/pdf
dc.format.mimetypetext/plain
dc.language.isoen_US
dc.publisherSpringer-Verlagen_US
dc.subject.otherMolecular Medicineen_US
dc.subject.otherInternal Medicineen_US
dc.subject.otherMetabolic Diseasesen_US
dc.subject.otherHuman Geneticsen_US
dc.subject.otherBiomedicineen_US
dc.titleScreening for steroid sulfatase (STS) gene deletions by multiplex DNA amplificationen_US
dc.typeArticleen_US
dc.subject.hlbsecondlevelMolecular, Cellular and Developmental Biologyen_US
dc.subject.hlbsecondlevelGeneticsen_US
dc.subject.hlbsecondlevelBiological Chemistryen_US
dc.subject.hlbtoplevelScienceen_US
dc.subject.hlbtoplevelHealth Sciencesen_US
dc.description.peerreviewedPeer Revieweden_US
dc.contributor.affiliationumInstitute for Molecular Genetics, Baylor College of Medicine, One Baylor Plaza, 77030, Houston, TX, USA; Department of Human Genetics, University of Michigan Medical School, Ann Arbor, Michigan, USAen_US
dc.contributor.affiliationotherHoward Hughes Medical Institute, Baylor College of Medicine, One Baylor Plaza, 77030, Houston, TX, USA; Institute for Molecular Genetics, Baylor College of Medicine, One Baylor Plaza, 77030, Houston, TX, USA; Institute for Molecular Genetics, Baylor College of Medicine, One Baylor Plaza, 77030, Houston, TX, USAen_US
dc.contributor.affiliationotherHoward Hughes Medical Institute, Baylor College of Medicine, One Baylor Plaza, 77030, Houston, TX, USA; Institute for Molecular Genetics, Baylor College of Medicine, One Baylor Plaza, 77030, Houston, TX, USAen_US
dc.contributor.affiliationotherInternational Institute of Genetics and Biophysics, CNR, Via Marconi 10, Naples, Italyen_US
dc.contributor.affiliationotherInstitute for Molecular Genetics, Baylor College of Medicine, One Baylor Plaza, 77030, Houston, TX, USAen_US
dc.contributor.affiliationumcampusAnn Arboren_US
dc.identifier.pmid2338343en_US
dc.description.bitstreamurlhttp://deepblue.lib.umich.edu/bitstream/2027.42/47626/1/439_2004_Article_BF00210812.pdfen_US
dc.identifier.doihttp://dx.doi.org/10.1007/BF00210812en_US
dc.identifier.sourceHuman Geneticsen_US
dc.owningcollnameInterdisciplinary and Peer-Reviewed


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