The novel genetic disorder microhydranencephaly maps to chromosome 16p13.3-12.1

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dc.contributor.authorKavaslar, GN
dc.contributor.authorÖnengüt, S
dc.contributor.authorDerman, O
dc.contributor.authorKaya, A
dc.contributor.authorTolun, A
dc.date.accessioned2024-04-24T17:07:58Z
dc.date.available2024-04-24T17:07:58Z
dc.date.issued2000
dc.departmentDicle Üniversitesien_US
dc.description.abstractWe studied a large consanguineous Anatolian family with children who exhibited hydranencephaly associated with microcephaly. The children were severely affected. This novel genetic disorder is autosomal recessive. We used autozygosity mapping to identify a locus at chromosome 16p13.3-12.1; it has a LOD score of 4.11. The gene locus is within a maximal 11-cM interval between markers D16S497 and D16S672 and within a minimal critical region of 8 cM between markers D16S748 and D16S490.en_US
dc.identifier.doi10.1086/302898
dc.identifier.endpage1709en_US
dc.identifier.issn0002-9297
dc.identifier.issue5en_US
dc.identifier.pmid10762554
dc.identifier.scopus2-s2.0-0033941679
dc.identifier.scopusqualityQ1
dc.identifier.startpage1705en_US
dc.identifier.urihttps://doi.org/10.1086/302898
dc.identifier.urihttps://hdl.handle.net/11468/17122
dc.identifier.volume66en_US
dc.identifier.wosWOS:000088373700026
dc.identifier.wosqualityQ1
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakScopus
dc.indekslendigikaynakPubMed
dc.language.isoenen_US
dc.publisherUniv Chicago Pressen_US
dc.relation.ispartofAmerican Journal of Human Genetics
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subject[No Keyword]en_US
dc.titleThe novel genetic disorder microhydranencephaly maps to chromosome 16p13.3-12.1en_US
dc.titleThe novel genetic disorder microhydranencephaly maps to chromosome 16p13.3-12.1
dc.typeArticleen_US

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