Sökning: "choroideremia"
Hittade 1 avhandling innehållade ordet choroideremia.
1. Phenotypes and genotypes in families with hereditary tapetoretinal degenerations
Sammanfattning : The purpose of the study was to characterise the phenotype with emphasis on electroretinography in four different types of hereditary retinal degeneration and to correlate it to a genotype when possible. Two methods were used: full-field electroretinography for objective assessment of retinal function and mutation screening of blood samples for detection of gene alterations. LÄS MER
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