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Genetic screening of LCA in Belgium: predominance of CEP290 and identification of potential modifier alleles in AHI1 of CEP290-related phenotypes.
Coppieters, Frauke; Casteels, Ingele; Meire, Françoise; De Jaegere, Sarah; Hooghe, Sally; van Regemorter, Nicole; Van Esch, Hilde; Matuleviciene, Ausra; Nunes, Luis; Meersschaut, Valérie; Walraedt, Sophie; Standaert, Lieve; Coucke, Paul; Hoeben, Heidi; Kroes, Hester Y; Vande Walle, Johan; de Ravel, Thomy; Leroy, Bart P; De Baere, Elfride.
Affiliation
  • Coppieters F; Center for Medical Genetics Ghent, Ghent University Hospital, Ghent, Belgium.
Hum Mutat ; 31(10): E1709-66, 2010 Oct.
Article in En | MEDLINE | ID: mdl-20683928
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Genetic Testing / Adaptor Proteins, Signal Transducing / Alleles / Leber Congenital Amaurosis / Antigens, Neoplasm / Neoplasm Proteins Type of study: Diagnostic_studies / Prognostic_studies / Screening_studies Limits: Adolescent / Adult / Child / Child, preschool / Humans / Infant / Middle aged Country/Region as subject: Europa Language: En Journal: Hum Mutat Journal subject: GENETICA MEDICA Year: 2010 Document type: Article Affiliation country: Belgium Country of publication: United States
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Genetic Testing / Adaptor Proteins, Signal Transducing / Alleles / Leber Congenital Amaurosis / Antigens, Neoplasm / Neoplasm Proteins Type of study: Diagnostic_studies / Prognostic_studies / Screening_studies Limits: Adolescent / Adult / Child / Child, preschool / Humans / Infant / Middle aged Country/Region as subject: Europa Language: En Journal: Hum Mutat Journal subject: GENETICA MEDICA Year: 2010 Document type: Article Affiliation country: Belgium Country of publication: United States