Please use this identifier to cite or link to this item: http://hdl.handle.net/2440/7885
Citations
Scopus Web of Science® Altmetric
?
?
Full metadata record
DC FieldValueLanguage
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.date.issued2003en
dc.identifier.citationTrends in Genetics, 2003; 19(6):316-320en
dc.identifier.issn0168-9525en
dc.identifier.urihttp://hdl.handle.net/2440/7885-
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.language.isoenen
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
dc.identifier.rmid0020032088en
dc.identifier.doi10.1016/S0168-9525(03)00113-6en
dc.identifier.pubid57726-
pubs.library.collectionPaediatrics publicationsen
pubs.verification-statusVerifieden
pubs.publication-statusPublisheden
dc.identifier.orcidGecz, J. [0000-0002-7884-6861]en
Appears in Collections:Paediatrics publications

Files in This Item:
There are no files associated with this item.


Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.