Sökning: "LHON"

Hittade 2 avhandlingar innehållade ordet LHON.

1. 1. Enabling massive genomic and transcriptomic analysis

   Författare :Henrik Stranneheim; Joakim Lundeberg; Elaine Mardis; KTH; []
   Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; DNA; RNA; sequencing; massively parallel sequencing; alignment; assembly; single nucleotide polymorphism; LHON;

   Sammanfattning : In recent years there have been tremendous advances in our ability to rapidly and cost-effectively sequence DNA. This has revolutionized the fields of genetics and biology, leading to a deeper understanding of the molecular events in life processes. LÄS MER

3. 2. Evaluation of the visual pathway with ERG, mfERG and mfVEP in inherited eye disorders

   Författare :Lotta Gränse; Lund Oftalmologi; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; multifocal ERG; Full-field ERG; multifocal VEP; Bothnia Dystrophy; Retinitis pigmentosa; Dominant optic atrophy; Leber`s hereditary optic neuropathy; Oftalmologi; Ophtalmology;

   Sammanfattning : This thesis will describe the clinical phenotypes, with emphasis on electrophysiology, in patients with different hereditary eye diseases and to further evaluate and modify the mfVEP technique for clinical use. Bothnia Dystrophy is a tapetoretinal disorder with a mutation in the RLBP1 gene. LÄS MER