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Genotype-phenotype correlation and longitudinal course in ten families with Best vitelliform macular dystrophy

Wabbels, B. and Preising, M. N. and Kretschmann, U. and Demmler, A. and Lorenz, B. (2006) Genotype-phenotype correlation and longitudinal course in ten families with Best vitelliform macular dystrophy. Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv für klinische und experimentelle Ophthalmologie 244 (11), pp. 1453-1466.

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Other URL: http://dx.doi.org/10.1007/s00417-006-0286-6


Abstract

AIM: Longitudinal course and genotype-phenotype correlation in patients and carriers with heterozygous mutations in hBEST1 (bestrophin). METHODS: Thirteen patients and seven possible carriers were characterised by mutation analysis with SSCPA and direct sequencing, clinical examination and fundus autofluorescence (AF). Electrophysiology (EOG and mfERG) and optical coherence tomography (OCT) were ...

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Item Type:Article
Date:November 2006
Institutions:Medicine > Abteilung für Pädiatrische Ophthalmologie, Strabismologie und Ophthalmogenetik
Medicine > Lehrstuhl für Augenheilkunde
Identification Number:
ValueType
10.1007/s00417-006-0286-6DOI
16612637PubMed ID
Keywords:Bestrophin; Juvenile vitelliform macular dystrophy; Longitudinal course; Optical coherence tomography; Electrooculogram; Fundus autofluorescence
Subjects:600 Technology > 610 Medical sciences Medicine
Status:Published
Refereed:Yes, this version has been refereed
Created at the University of Regensburg:Yes
Owner: Ute Lange
Deposited On:05 Mar 2007
Last Modified:13 Mar 2014 09:46
Item ID:1217
Owner Only: item control page

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