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...

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Main Authors: Littink, Karin W., Koenekoop, Robert K., van den Born, L. Ingeborgh, Collin, Rob W. J., Moruz, Luminita, Veltman, Joris A., Roosing, Susanne, Zonneveld, Marijke N., Omar, Amer, Darvish, Mahshad, Lopez, Irma, Kroes, Hester Y., van Genderen, Maria M., Hoyng, Carel B., Rohrschneider, Klaus, van Schooneveld, Mary J., Cremers, Frans P. M., den Hollander, Anneke I.
Formato: Artigo
Idioma:Inglês
Publicado em: Association for Research in Vision and Ophthalmology, Inc. 2010
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Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3061516/
https://ncbi.nlm.nih.gov/pubmed/20554613
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1167/iovs.10-5797
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