Sökning: "Cockayne Syndrome"
Hittade 2 avhandlingar innehållade orden Cockayne Syndrome.
1. Retinal function in deaf-blind syndromes
Sammanfattning : A variety of disorders can cause retinal degeneration and hearing impairment, and it is of great value to have an early diagnosis since there is a large variation in phenotype and prognosis both within and between the different disorders. The general aim of this thesis was to characterize the retinal function, to describe the phenotype, and – where appropriate – to relate the phenotype to genotype in patients with combined visual and hearing impairment. LÄS MER
2. Chromatin remodelling in Pol I and III transcription
Sammanfattning : Compaction of chromosomes in the eukaryotic cell is due to interactions between DNA and proteins and interactions between proteins. These two types of interaction form a dynamic structure, known as "chromatin". The condensation of chromatin must be carefully regulated, since the structure is an obstacle for factors that need access to the DNA. LÄS MER