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De novo intrachromosomal gene conversion from OPN1MW to OPN1LW in the male germline results in Blue Cone Monochromacy.
Buena-Atienza, Elena; Rüther, Klaus; Baumann, Britta; Bergholz, Richard; Birch, David; De Baere, Elfride; Dollfus, Helene; Greally, Marie T; Gustavsson, Peter; Hamel, Christian P; Heckenlively, John R; Leroy, Bart P; Plomp, Astrid S; Pott, Jan Willem R; Rose, Katherine; Rosenberg, Thomas; Stark, Zornitza; Verheij, Joke B G M; Weleber, Richard; Zobor, Ditta; Weisschuh, Nicole; Kohl, Susanne; Wissinger, Bernd.
Afiliação
  • Buena-Atienza E; Institute for Ophthalmic Research, Centre for Ophthalmology, Tuebingen, Germany.
  • Rüther K; Sankt Gertrauden-Krankenhaus, Berlin, Germany.
  • Baumann B; Institute for Ophthalmic Research, Centre for Ophthalmology, Tuebingen, Germany.
  • Bergholz R; Department of Ophthalmology, Charité - Universitätsmedizin Berlin, Campus Virchow-Klinikum, Berlin, Germany.
  • Birch D; Retina Foundation of the Southwest, Tom and Dorothy Anderson Vision Research Center, Texas, USA.
  • De Baere E; Department of Ophthalmology &Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.
  • Dollfus H; Centre de Référence pour les Affections Rares en Génétique Ophtalmologique, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.
  • Greally MT; National Centre for Medical Genetics, Our Lady's Children's Hospital, Dublin, Ireland.
  • Gustavsson P; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.
  • Hamel CP; Genetic Sensory Diseases - Hopital Gui de Chauliac, Centre Hospitalier Universitaire, Montpellier, France.
  • Heckenlively JR; Department of Ophthalmology and Visual Sciences, W. K. Kellogg Eye Center, University of Michigan, Ann Arbor, MI, USA.
  • Leroy BP; Department of Ophthalmology &Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.
  • Plomp AS; Department of Clinical Genetics, Academic Medical Center, Amsterdam, The Netherlands.
  • Pott JW; Department of Ophthalmology, University Medical Centre Groningen, University of Groningen, The Netherlands.
  • Rose K; Genetic Health Services Victoria, Monash Medical Centre, Parkville, Australia.
  • Rosenberg T; National Eye Clinic for the Visually Impaired, Kennedy Center, Glostrup, Denmark.
  • Stark Z; Victorian Clinical Genetics Services, Murdoch Childrens Research Institute, Parkville, Victoria, Australia.
  • Verheij JB; Department of Medical Genetics, University Medical Centre Groningen, University of Groningen, The Netherlands.
  • Weleber R; Department of Ophthalmic Genetics, Casey Eye Institute, Portland, OR, USA.
  • Zobor D; Institute for Ophthalmic Research, Centre for Ophthalmology, Tuebingen, Germany.
  • Weisschuh N; Institute for Ophthalmic Research, Centre for Ophthalmology, Tuebingen, Germany.
  • Kohl S; Institute for Ophthalmic Research, Centre for Ophthalmology, Tuebingen, Germany.
  • Wissinger B; Institute for Ophthalmic Research, Centre for Ophthalmology, Tuebingen, Germany.
Sci Rep ; 6: 28253, 2016 06 24.
Article em En | MEDLINE | ID: mdl-27339364
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Defeitos da Visão Cromática / Opsinas de Bastonetes / Mutação em Linhagem Germinativa / Doenças Genéticas Ligadas ao Cromossomo X / Conversão Gênica Limite: Female / Humans / Male Idioma: En Revista: Sci Rep Ano de publicação: 2016 Tipo de documento: Article País de afiliação: Alemanha
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Defeitos da Visão Cromática / Opsinas de Bastonetes / Mutação em Linhagem Germinativa / Doenças Genéticas Ligadas ao Cromossomo X / Conversão Gênica Limite: Female / Humans / Male Idioma: En Revista: Sci Rep Ano de publicação: 2016 Tipo de documento: Article País de afiliação: Alemanha