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dc.contributor.authorRopers, H.en
dc.contributor.authorHoeltzenbein, M.en
dc.contributor.authorKalscheuer, V.en
dc.contributor.authorYntema, H.en
dc.contributor.authorHamel, B.en
dc.contributor.authorFryns, J.en
dc.contributor.authorChelly, J.en
dc.contributor.authorPartington, M.en
dc.contributor.authorGecz, J.en
dc.contributor.authorMoraine, C.en
dc.identifier.citationTrends in Genetics, 2003; 19(6):316-320en
dc.description.abstractAnalysis of linkage intervals from 125 unrelated families with nonsyndromic X-linked mental retardation (NS-XLMR) has revealed that the respective gene defects are conspicuously clustered in defined regions of the human X-chromosome, with approximately 30% of all mutations being located on the proximal Xp. In 83% of these families, underlying gene defects are not yet known. Our observations should speed up the search for mutations that are still missing and pave the way for the molecular diagnosis of this common disorder.en
dc.description.statementofresponsibilityHans-Hilger Ropers, Maria Hoeltzenbein, Vera Kalscheuer, Helger Yntema, Ben Hamel, Jean-Pierre Fryns, Jamel Chelly, Michael Partington, Jozef Gecz and Claude Moraineen
dc.publisherElsevier Science Londonen
dc.rightsCrown copyright © 2003 Published by Elsevier Science Ltd.en
dc.subjectChromosomes, Human, X; Humans; Mental Retardation, X-Linked; Phenotype; Mutation; Genetic Linkageen
dc.titleNonsyndromic x-linked mental retardation: where are the missing mutations?en
dc.typeJournal articleen
pubs.library.collectionPaediatrics publicationsen
dc.identifier.orcidGecz, J. [0000-0002-7884-6861]en
Appears in Collections:Paediatrics publications

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