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Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome.

dc.contributor.authorCruces, J
dc.contributor.authorWalsh, C
dc.contributor.authorLehesjoki, A
dc.contributor.authorvan Bokhoven, H
dc.contributor.authorBrunner, H
dc.contributor.authorBeltran-Valero, D
dc.contributor.authorCurrier, S
dc.contributor.authorSteinbrecher, A
dc.contributor.authorCelli, J
dc.contributor.authorKayserili, H
dc.contributor.authorMerlini, L
dc.contributor.authorChitayat, D
dc.contributor.authorDobyns, W
dc.contributor.authorCormand, B
dc.contributor.authorVoit, T
dc.date.accessioned2021-03-03T16:04:52Z
dc.date.available2021-03-03T16:04:52Z
dc.identifier.citationBeltran-Valero D., Currier S., Steinbrecher A., Celli J., Kayserili H., Merlini L., Chitayat D., Dobyns W., Cormand B., Voit T., et al., "Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome.", 52nd Annual Meeting of the American-Society-of-Human-Genetics, BALTIMORE, MARYLAND, 15 - 19 Ekim 2002, cilt.71, ss.165
dc.identifier.othervv_1032021
dc.identifier.otherav_4248aacd-9f67-4bbc-bb24-0306e6651a54
dc.identifier.urihttp://hdl.handle.net/20.500.12627/48289
dc.language.isoeng
dc.subjectSağlık Bilimleri
dc.subjectDahili Tıp Bilimleri
dc.subjectTıbbi Genetik
dc.subjectYaşam Bilimleri
dc.subjectMoleküler Biyoloji ve Genetik
dc.subjectGENETİK VE HAYAT
dc.subjectTemel Bilimler
dc.subjectMoleküler Biyoloji ve Genetik
dc.subjectYaşam Bilimleri (LIFE)
dc.subjectTıp
dc.titleMutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome.
dc.typeBildiri
dc.contributor.department, ,
dc.identifier.volume71
dc.contributor.firstauthorID128216


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