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Article: Use of X-chromosome inactivation analysis to establish carrier status for X-linked severe combined immunodeficiency

TitleUse of X-chromosome inactivation analysis to establish carrier status for X-linked severe combined immunodeficiency
Authors
Issue Date1988
PublisherThe Lancet Publishing Group. The Journal's web site is located at http://www.elsevier.com/locate/lancet
Citation
Lancet, 1988, v. 1 n. 8588, p. 729-732 How to Cite?
AbstractAnalysis of X chromosome inactivation in T-lymphocyte DNA from two obligate carriers of X-linked severe combined immunodeficiency showed a non-random pattern. This method was then used to establish carrier status in at-risk females in X-linked pedigrees. It was further used to differentiate between X-linked and autosomal recessive inheritance of the disease when the mode of inheritance was not clear from the pedigree. In addition, a mother of a boy affected by the sporadic form of the disease was found to have non-random X inactivation in her T lymphocytes and she is therefore a carrier of the X-linked disease.
Persistent Identifierhttp://hdl.handle.net/10722/170231
ISSN
2015 Impact Factor: 44.002
2015 SCImago Journal Rankings: 14.638
ISI Accession Number ID

 

DC FieldValueLanguage
dc.contributor.authorGoodship, Jen_US
dc.contributor.authorMalcolm, Sen_US
dc.contributor.authorLau, YLen_US
dc.contributor.authorPembrey, MEen_US
dc.contributor.authorLevinsky, RJen_US
dc.date.accessioned2012-10-30T06:06:51Z-
dc.date.available2012-10-30T06:06:51Z-
dc.date.issued1988en_US
dc.identifier.citationLancet, 1988, v. 1 n. 8588, p. 729-732en_US
dc.identifier.issn0140-6736en_US
dc.identifier.urihttp://hdl.handle.net/10722/170231-
dc.description.abstractAnalysis of X chromosome inactivation in T-lymphocyte DNA from two obligate carriers of X-linked severe combined immunodeficiency showed a non-random pattern. This method was then used to establish carrier status in at-risk females in X-linked pedigrees. It was further used to differentiate between X-linked and autosomal recessive inheritance of the disease when the mode of inheritance was not clear from the pedigree. In addition, a mother of a boy affected by the sporadic form of the disease was found to have non-random X inactivation in her T lymphocytes and she is therefore a carrier of the X-linked disease.en_US
dc.languageengen_US
dc.publisherThe Lancet Publishing Group. The Journal's web site is located at http://www.elsevier.com/locate/lanceten_US
dc.relation.ispartofLanceten_US
dc.subject.meshChromosome Mappingen_US
dc.subject.meshDna - Analysisen_US
dc.subject.meshDosage Compensation, Geneticen_US
dc.subject.meshFemaleen_US
dc.subject.meshGenetic Linkageen_US
dc.subject.meshHeterozygote Detection - Methodsen_US
dc.subject.meshHumansen_US
dc.subject.meshHypoxanthine Phosphoribosyltransferase - Analysis - Geneticsen_US
dc.subject.meshImmunologic Deficiency Syndromes - Enzymology - Geneticsen_US
dc.subject.meshMaleen_US
dc.subject.meshNucleic Acid Hybridizationen_US
dc.subject.meshPedigreeen_US
dc.subject.meshPhosphoglycerate Kinase - Analysis - Geneticsen_US
dc.subject.meshPolymorphism, Restriction Fragment Lengthen_US
dc.subject.meshSex Chromosome Aberrations - Enzymology - Geneticsen_US
dc.subject.meshT-Lymphocytes - Analysis - Enzymologyen_US
dc.titleUse of X-chromosome inactivation analysis to establish carrier status for X-linked severe combined immunodeficiencyen_US
dc.typeArticleen_US
dc.identifier.emailLau, YL:lauylung@hkucc.hku.hken_US
dc.identifier.authorityLau, YL=rp00361en_US
dc.description.naturelink_to_subscribed_fulltexten_US
dc.identifier.pmid2895261-
dc.identifier.scopuseid_2-s2.0-0023857417en_US
dc.identifier.volume1en_US
dc.identifier.issue8588en_US
dc.identifier.spage729en_US
dc.identifier.epage732en_US
dc.identifier.isiWOS:A1988M787500003-
dc.publisher.placeUnited Kingdomen_US
dc.identifier.scopusauthoridGoodship, J=7005401296en_US
dc.identifier.scopusauthoridMalcolm, S=7101923907en_US
dc.identifier.scopusauthoridLau, YL=7201403380en_US
dc.identifier.scopusauthoridPembrey, ME=7006415948en_US
dc.identifier.scopusauthoridLevinsky, RJ=7006539367en_US

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