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BBS1 mutations in a wide spectrum of phenotypes ranging from nonsyndromic retinitis pigmentosa to Bardet-Biedl syndrome.
Estrada-Cuzcano, Alejandro; Koenekoop, Robert K; Senechal, Audrey; De Baere, Elfride B W; de Ravel, Thomy; Banfi, Sandro; Kohl, Susanne; Ayuso, Carmen; Sharon, Dror; Hoyng, Carel B; Hamel, Christian P; Leroy, Bart P; Ziviello, Carmela; Lopez, Irma; Bazinet, Alexandre; Wissinger, Bernd; Sliesoraityte, Ieva; Avila-Fernandez, Almudena; Littink, Karin W; Vingolo, Enzo M; Signorini, Sabrina; Banin, Eyal; Mizrahi-Meissonnier, Liliana; Zrenner, Eberhard; Kellner, Ulrich; Collin, Rob W J; den Hollander, Anneke I; Cremers, Frans P M; Klevering, B Jeroen.
Affiliation
  • Estrada-Cuzcano A; Departments of Human Genetics, Radboud University Nijmegen Medical Centre, PO Box 9101, 6500 HB, Nijmegen, the Netherlands.
Arch Ophthalmol ; 130(11): 1425-32, 2012 Nov.
Article in En | MEDLINE | ID: mdl-23143442
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Full text: 1 Database: MEDLINE Main subject: DNA / Retinitis Pigmentosa / Mutation, Missense / Bardet-Biedl Syndrome / Microtubule-Associated Proteins Type of study: Clinical_trials / Diagnostic_studies / Prevalence_studies / Prognostic_studies / Risk_factors_studies / Screening_studies Limits: Adult / Female / Humans / Male / Middle aged Country/Region as subject: America do norte / Asia / Europa Language: En Year: 2012 Type: Article
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Full text: 1 Database: MEDLINE Main subject: DNA / Retinitis Pigmentosa / Mutation, Missense / Bardet-Biedl Syndrome / Microtubule-Associated Proteins Type of study: Clinical_trials / Diagnostic_studies / Prevalence_studies / Prognostic_studies / Risk_factors_studies / Screening_studies Limits: Adult / Female / Humans / Male / Middle aged Country/Region as subject: America do norte / Asia / Europa Language: En Year: 2012 Type: Article