Homozygosity mapping in patients with cone-rod dystrophy: novel mutations and clinical characterizations.A homogenous frameshift mutation in LRAT causes retinitis punctata albescens.Homozygosity mapping reveals PDE6C mutations in patients with early-onset cone photoreceptor disorders.Clinical course of cone dystrophy caused by mutations in the RPGR gene.High-resolution homozygosity mapping is a powerful tool to detect novel mutations causative for autosomal recessive RP in the Dutch population.
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A.I. Den Hollander
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Den Hollander