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New COL6A6 variant detected by whole-exome sequencing is linked to break points in intron 4 and 3'-UTR, deleting exon 5 of RHO, and causing adRP.
de Sousa Dias, Miguel; Hernan, Imma; Delás, Barbara; Pascual, Beatriz; Borràs, Emma; Gamundi, Maria José; Mañé, Begoña; Fernández-San José, Patricia; Ayuso, Carmen; Carballo, Miguel.
Afiliação
  • de Sousa Dias M; Molecular Genetics Unit, Hospital of Terrassa, Barcelona, Spain.
  • Hernan I; Molecular Genetics Unit, Hospital of Terrassa, Barcelona, Spain.
  • Delás B; Ophthalmology Service, Hospital of Terrassa Barcelona, Spain.
  • Pascual B; Molecular Genetics Unit, Hospital of Terrassa, Barcelona, Spain.
  • Borràs E; Molecular Genetics Unit, Hospital of Terrassa, Barcelona, Spain.
  • Gamundi MJ; Molecular Genetics Unit, Hospital of Terrassa, Barcelona, Spain.
  • Mañé B; Molecular Genetics Unit, Hospital of Terrassa, Barcelona, Spain.
  • Fernández-San José P; Department of Genetics, IIS-Jimenez Diaz Foundation (IIS-FJD), Madrid, Spain ; Centre for Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain.
  • Ayuso C; Department of Genetics, IIS-Jimenez Diaz Foundation (IIS-FJD), Madrid, Spain ; Centre for Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain.
  • Carballo M; Molecular Genetics Unit, Hospital of Terrassa, Barcelona, Spain.
Mol Vis ; 21: 857-70, 2015.
Article em En | MEDLINE | ID: mdl-26321861
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Rodopsina / Retinose Pigmentar / Colágeno Tipo VI Tipo de estudo: Prognostic_studies Limite: Female / Humans / Male Idioma: En Revista: Mol Vis Ano de publicação: 2015 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Rodopsina / Retinose Pigmentar / Colágeno Tipo VI Tipo de estudo: Prognostic_studies Limite: Female / Humans / Male Idioma: En Revista: Mol Vis Ano de publicação: 2015 Tipo de documento: Article