[Hereditary juvenile dystrophy of the macula in a large family from Epirus]

dc.contributor.authorKitsos, G.en
dc.contributor.authorCote, G. B.en
dc.contributor.authorKalogero-Poulos, C.en
dc.contributor.authorPsilas, K.en
dc.date.accessioned2015-11-24T19:14:03Z
dc.date.available2015-11-24T19:14:03Z
dc.identifier.issn0181-5512-
dc.identifier.urihttps://olympias.lib.uoi.gr/jspui/handle/123456789/21257
dc.rightsDefault Licence-
dc.subjectAdolescenten
dc.subjectAdulten
dc.subjectAgeden
dc.subjectChilden
dc.subjectChild, Preschoolen
dc.subjectColor Perceptionen
dc.subjectCorneal Dystrophies, Hereditary/*geneticsen
dc.subjectFemaleen
dc.subjectGreeceen
dc.subjectHumansen
dc.subjectInfanten
dc.subjectInfant, Newbornen
dc.subjectMacula Luteaen
dc.subjectMaleen
dc.subjectMiddle Ageden
dc.subjectPedigreeen
dc.subjectVisual Acuityen
dc.title[Hereditary juvenile dystrophy of the macula in a large family from Epirus]en
heal.abstractThe authors present a clinical, epidemiologic and genetic study of juvenile macular dystrophy (Stargardt's disease) in a large kindred from Epirus in Greece. The family tree consists of 372 individuals spanning six generations over more than a century. 257 are direct descendants of the founding couple. Nineteen individuals were found to suffer from Stargardt's disease, thirteen of whom are still alive today. Segregation analysis of the data showed that in this pedigree, the disease is transmitted with the autosomal dominant mode of inheritance.en
heal.accesscampus-
heal.fullTextAvailabilityTRUE-
heal.identifier.secondaryhttp://www.ncbi.nlm.nih.gov/pubmed/2638364-
heal.journalNameJ Fr Ophtalmolen
heal.journalTypepeer-reviewed-
heal.languagefr-
heal.publicationDate1989-
heal.recordProviderΠανεπιστήμιο Ιωαννίνων. Σχολή Επιστημών Υγείας. Τμήμα Ιατρικήςel
heal.typejournalArticle-
heal.type.elΆρθρο Περιοδικούel
heal.type.enJournal articleen

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