The power of homozygosity mapping: Discovery of new genetic defects in patients with retinal dystrophy

Karin W Littink

    Research output: Types of ThesisDoctoral Thesis

    Abstract

    Over the last tw o decades, approximately one hundred genes have been identified,
    that are associated w ith retinal dystrophies. In many patients, though, the genetic
    cause is still unknown. In this thesis, w e attempted to identify new genes and
    gene mutations in patients with autosomal recessive retinal dystrophies, using
    homozygosity mapping and linkage analysis. We mainly focused on patients affected by cone-rod dystrophy (CRD), but also patients w ith retinitis pigmentosa (RP) and Leber congenital amaurosis (LCA) w e re included in this study.
    Original languageEnglish
    Awarding Institution
    Supervisors/Advisors
    • van den Born, Ingeborgh, Supervisor
    Publication statusPublished - 2010

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