Homozygosity Mapping in Patients with Cone–Rod Dystrophy: Novel Mutations and Clinical Characterizations
نویسندگان
چکیده
منابع مشابه
Homozygosity mapping in patients with cone-rod dystrophy: novel mutations and clinical characterizations.
PURPOSE To determine the genetic defect and to describe the clinical characteristics in a cohort of mainly nonconsanguineous cone-rod dystrophy (CRD) patients. METHODS One hundred thirty-nine patients with diagnosed CRD were recruited. Ninety of them were screened for known mutations in ABCA4, and those carrying one or two mutations were excluded from further research. Genome-wide homozygosit...
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چکیده ندارد.
Homozygosity mapping reveals novel and known mutations in Pakistani families with inherited retinal dystrophies
Inherited retinal dystrophies are phenotypically and genetically heterogeneous. This extensive heterogeneity poses a challenge when performing molecular diagnosis of patients, especially in developing countries. In this study, we applied homozygosity mapping as a tool to reduce the complexity given by genetic heterogeneity and identify disease-causing variants in consanguineous Pakistani pedigr...
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ژورنال
عنوان ژورنال: Investigative Opthalmology & Visual Science
سال: 2010
ISSN: 1552-5783
DOI: 10.1167/iovs.10-5797