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Article: Genetic prediction in X-linked agammaglobulinaemia

TitleGenetic prediction in X-linked agammaglobulinaemia
Authors
Lau, YLLevinsky, RJMalcolm, SGoodship, JWinter, RPembrey, M
Issue Date1988
Citation
American Journal Of Medical Genetics, 1988, v. 31 n. 2, p. 437-448 How to Cite?
DOI: http://dx.doi.org/10.1002/ajmg.1320310224
AbstractS21 (DXS17) and pXG12 (DXS94), two probes linked to the locus of X-linked agammaglobulinaemia (XLA), were used for genetic prediction in 13 such families. A method of allowing for nonallelic genetic heterogeneity was demonstrated in the calculation of the genetic risks, specifying a certain proportion of unlinked families. We further estimated the impact due to the uncertainty of the proportion of unlinked families on the final genetic risks in each family and this can be taken into account during genetic counselling.
Persistent Identifierhttp://hdl.handle.net/10722/170226
ISSN
0148-7299
ISI Accession Number ID
WOS:A1988Q621500023

 

DC FieldValueLanguage
dc.contributor.authorLau, YLen_US
dc.contributor.authorLevinsky, RJen_US
dc.contributor.authorMalcolm, Sen_US
dc.contributor.authorGoodship, Jen_US
dc.contributor.authorWinter, Ren_US
dc.contributor.authorPembrey, Men_US
dc.date.accessioned2012-10-30T06:06:49Z-
dc.date.available2012-10-30T06:06:49Z-
dc.date.issued1988en_US
dc.identifier.citationAmerican Journal Of Medical Genetics, 1988, v. 31 n. 2, p. 437-448en_US
dc.identifier.issn0148-7299en_US
dc.identifier.urihttp://hdl.handle.net/10722/170226-
dc.description.abstractS21 (DXS17) and pXG12 (DXS94), two probes linked to the locus of X-linked agammaglobulinaemia (XLA), were used for genetic prediction in 13 such families. A method of allowing for nonallelic genetic heterogeneity was demonstrated in the calculation of the genetic risks, specifying a certain proportion of unlinked families. We further estimated the impact due to the uncertainty of the proportion of unlinked families on the final genetic risks in each family and this can be taken into account during genetic counselling.en_US
dc.languageengen_US
dc.relation.ispartofAmerican Journal of Medical Geneticsen_US
dc.subject.meshAgammaglobulinemia - Geneticsen_US
dc.subject.meshAllelesen_US
dc.subject.meshDna - Genetics - Isolation & Purificationen_US
dc.subject.meshFemaleen_US
dc.subject.meshGenetic Linkageen_US
dc.subject.meshHeterozygote Detectionen_US
dc.subject.meshHumansen_US
dc.subject.meshMaleen_US
dc.subject.meshModels, Geneticen_US
dc.subject.meshPedigreeen_US
dc.subject.meshRisk Factorsen_US
dc.subject.meshX Chromosomeen_US
dc.titleGenetic prediction in X-linked agammaglobulinaemiaen_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.doi10.1002/ajmg.1320310224-
dc.identifier.pmid3232706-
dc.identifier.scopuseid_2-s2.0-0023732238en_US
dc.identifier.volume31en_US
dc.identifier.issue2en_US
dc.identifier.spage437en_US
dc.identifier.epage448en_US
dc.identifier.isiWOS:A1988Q621500023-
dc.publisher.placeUnited Statesen_US
dc.identifier.scopusauthoridLau, YL=7201403380en_US
dc.identifier.scopusauthoridLevinsky, RJ=7006539367en_US
dc.identifier.scopusauthoridMalcolm, S=7101923907en_US
dc.identifier.scopusauthoridGoodship, J=7005401296en_US
dc.identifier.scopusauthoridWinter, R=7402499938en_US
dc.identifier.scopusauthoridPembrey, M=7006415948en_US
dc.identifier.issnl0148-7299-

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