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RPGR isoform imbalance causes ciliary defects due to exon ORF15 mutations in X-linked retinitis pigmentosa (XLRP).
Moreno-Leon, Laura; West, Emma L; O'Hara-Wright, Michelle; Li, Linjing; Nair, Rohini; He, Jie; Anand, Manisha; Sahu, Bhubanananda; Chavali, Venkat Ramana Murthy; Smith, Alexander J; Ali, Robin R; Jacobson, Samuel G; Cideciyan, Artur V; Khanna, Hemant.
Afiliação
  • Moreno-Leon L; Department of Ophthalmology & Visual Sciences, UMass Medical School, Worcester, MA 01655, USA.
  • West EL; Division of Molecular Therapy, UCL Institute of Ophthalmology, London EC1V 9El, UK.
  • O'Hara-Wright M; Division of Molecular Therapy, UCL Institute of Ophthalmology, London EC1V 9El, UK.
  • Li L; Department of Ophthalmology & Visual Sciences, UMass Medical School, Worcester, MA 01655, USA.
  • Nair R; Department of Ophthalmology, Scheie Eye Institute, University of Pennsylvania, Philadelphia, PA 19104, USA.
  • He J; Department of Ophthalmology, Scheie Eye Institute, University of Pennsylvania, Philadelphia, PA 19104, USA.
  • Anand M; Department of Ophthalmology & Visual Sciences, UMass Medical School, Worcester, MA 01655, USA.
  • Sahu B; Department of Ophthalmology & Visual Sciences, UMass Medical School, Worcester, MA 01655, USA.
  • Chavali VRM; Department of Ophthalmology, Scheie Eye Institute, University of Pennsylvania, Philadelphia, PA 19104, USA.
  • Smith AJ; Division of Molecular Therapy, UCL Institute of Ophthalmology, London EC1V 9El, UK.
  • Ali RR; Division of Molecular Therapy, UCL Institute of Ophthalmology, London EC1V 9El, UK.
  • Jacobson SG; Department of Ophthalmology, Scheie Eye Institute, University of Pennsylvania, Philadelphia, PA 19104, USA.
  • Cideciyan AV; Department of Ophthalmology, Scheie Eye Institute, University of Pennsylvania, Philadelphia, PA 19104, USA.
  • Khanna H; Department of Ophthalmology & Visual Sciences, UMass Medical School, Worcester, MA 01655, USA.
Hum Mol Genet ; 29(22): 3706-3716, 2021 01 21.
Article em En | MEDLINE | ID: mdl-33355362
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Retinose Pigmentar / Doenças Genéticas Ligadas ao Cromossomo X / Proteínas do Olho Tipo de estudo: Etiology_studies Limite: Female / Humans / Male Idioma: En Revista: Hum Mol Genet Assunto da revista: BIOLOGIA MOLECULAR / GENETICA MEDICA Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Estados Unidos
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Retinose Pigmentar / Doenças Genéticas Ligadas ao Cromossomo X / Proteínas do Olho Tipo de estudo: Etiology_studies Limite: Female / Humans / Male Idioma: En Revista: Hum Mol Genet Assunto da revista: BIOLOGIA MOLECULAR / GENETICA MEDICA Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Estados Unidos