Mutations in FRMD7, a newly identified member of the FERM family, cause X-linked idiopathic congenital nystagmus

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dc.contributor.authorTarpey, P.en
dc.contributor.authorThomas, S.en
dc.contributor.authorSarvananthan, N.en
dc.contributor.authorMallya, U.en
dc.contributor.authorLisgo, S.en
dc.contributor.authorTalbot, C. J.en
dc.contributor.authorRoberts, E. O.en
dc.contributor.authorAwan, M.en
dc.contributor.authorSurendran, M.en
dc.contributor.authorMcLean, R. J.en
dc.contributor.authorReinecke, R. D.en
dc.contributor.authorLangmann, A.en
dc.contributor.authorLindner, S.en
dc.contributor.authorKoch, M.en
dc.contributor.authorJain, S.en
dc.contributor.authorWoodruff, G.en
dc.contributor.authorGale, R. P.en
dc.contributor.authorBastawrous, A.en
dc.contributor.authorDegg, C.en
dc.contributor.authorDroutsas, K.en
dc.contributor.authorAsproudis, I.en
dc.contributor.authorZubcov, A. A.en
dc.contributor.authorPieh, C.en
dc.contributor.authorVeal, C. D.en
dc.contributor.authorMachado, R. D.en
dc.contributor.authorBackhouse, O. C.en
dc.contributor.authorBaumber, L.en
dc.contributor.authorConstantinescu, C. S.en
dc.contributor.authorBrodsky, M. C.en
dc.contributor.authorHunter, D. G.en
dc.contributor.authorHertle, R. W.en
dc.contributor.authorRead, R. J.en
dc.contributor.authorEdkins, S.en
dc.contributor.authorO'Meara, S.en
dc.contributor.authorParker, A.en
dc.contributor.authorStevens, C.en
dc.contributor.authorTeague, J.en
dc.contributor.authorWooster, R.en
dc.contributor.authorFutreal, P. A.en
dc.contributor.authorTrembath, R. C.en
dc.contributor.authorStratton, M. R.en
dc.contributor.authorRaymond, F. L.en
dc.contributor.authorGottlob, I.en
dc.date.accessioned2015-11-24T19:02:53Z
dc.date.available2015-11-24T19:02:53Z
dc.identifier.issn1061-4036-
dc.identifier.urihttps://olympias.lib.uoi.gr/jspui/handle/123456789/19844
dc.rightsDefault Licence-
dc.subjectBrain/embryology/metabolismen
dc.subjectChromosome Mappingen
dc.subjectChromosomes, Human, Xen
dc.subjectCytoskeletal Proteins/*genetics/physiologyen
dc.subjectEye Movements/genetics/physiologyen
dc.subjectFemaleen
dc.subjectGene Expression Regulation, Developmentalen
dc.subject*Genes, X-Linkeden
dc.subjectGenetic Linkageen
dc.subjectHumansen
dc.subjectMaleen
dc.subjectMembrane Proteins/*genetics/physiologyen
dc.subjectMutation/physiologyen
dc.subjectNystagmus, Congenital/*geneticsen
dc.subjectPedigreeen
dc.subjectRetina/metabolismen
dc.titleMutations in FRMD7, a newly identified member of the FERM family, cause X-linked idiopathic congenital nystagmusen
heal.abstractIdiopathic congenital nystagmus is characterized by involuntary, periodic, predominantly horizontal oscillations of both eyes. We identified 22 mutations in FRMD7 in 26 families with X-linked idiopathic congenital nystagmus. Screening of 42 singleton cases of idiopathic congenital nystagmus (28 male, 14 females) yielded three mutations (7%). We found restricted expression of FRMD7 in human embryonic brain and developing neural retina, suggesting a specific role in the control of eye movement and gaze stability.en
heal.accesscampus-
heal.fullTextAvailabilityTRUE-
heal.identifier.primary10.1038/ng1893-
heal.identifier.secondaryhttp://www.ncbi.nlm.nih.gov/pubmed/17013395-
heal.journalNameNat Geneten
heal.journalTypepeer-reviewed-
heal.languageen-
heal.publicationDate2006-
heal.recordProviderΠανεπιστήμιο Ιωαννίνων. Σχολή Επιστημών Υγείας. Τμήμα Ιατρικήςel
heal.typejournalArticle-
heal.type.elΆρθρο Περιοδικούel
heal.type.enJournal articleen

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