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Phenotypes of 16 Stargardt macular dystrophy/fundus flavimaculatus patients with known ABCA4 mutations and evaluation of genotype–phenotype correlation

Gerth, C., Andrassi-Darida, M., Bock, M., Preising, M. N., Weber, Bernhard H. F. and Lorenz, B. (2002) Phenotypes of 16 Stargardt macular dystrophy/fundus flavimaculatus patients with known ABCA4 mutations and evaluation of genotype–phenotype correlation. Graefe's Archive for Clinical and Experimental Ophthalmology 240, pp. 628-638.

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Abstract

PURPOSE: To determine the phenotypic variability in patients with compound heterozygous or homozygous ABCA4 mutations, and to correlate the phenotypes with the functional properties of the altered protein. METHODS: Sixteen patients from 13 families with signs of Stargardt macular dystrophy/fundus flavimaculatus and known mutations on both alleles of the ABCA4 gene (15 compound heterozygous, one ...

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Item type:Article
Date:2002
Institutions:Medicine > Abteilung für Pädiatrische Ophthalmologie, Strabismologie und Ophthalmogenetik
Medicine > Lehrstuhl für Humangenetik
Identification Number:
ValueType
10.1007/s00417-002-0502-yDOI
12192456PubMed ID
Dewey Decimal Classification:600 Technology > 610 Medical sciences Medicine
Status:Published
Refereed:Yes, this version has been refereed
Created at the University of Regensburg:Yes
Item ID:35231
Owner only: item control page
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