Clinical characterization of patients with <i>PRPF31</i>-related retinitis pigmentosa and asymptomatic carriers: a cross-sectional study.

Lisbjerg, Kristian; Bertelsen, Mette; Grønskov, Karen; Kessel, Line

Clinical characterization of patients with PRPF31-related retinitis pigmentosa and asymptomatic carriers: a cross-sectional study.

Lisbjerg, Kristian; Bertelsen, Mette; Grønskov, Karen; Kessel, Line.

Afiliación

Lisbjerg K; Department of Ophthalmology, Copenhagen University Hospital - Rigshospitalet, Copenhagen, Denmark.
Bertelsen M; Department of Clinical Genetics, Copenhagen University Hospital - Rigshospitalet, Copenhagen, Denmark.
Grønskov K; Department of Clinical Genetics, Copenhagen University Hospital - Rigshospitalet, Copenhagen, Denmark.
Kessel L; Department of Ophthalmology, Copenhagen University Hospital - Rigshospitalet, Copenhagen, Denmark.

Ophthalmic Genet ; 44(5): 456-464, 2023 10.

Article en En | MEDLINE | ID: mdl-37293790

Asunto(s)

Retinitis Pigmentosa; Humanos; Estudios Transversales; Retinitis Pigmentosa/diagnóstico; Retinitis Pigmentosa/genética; Retina; Electrorretinografía; Heterocigoto; Proteínas del Ojo/genética

Palabras clave

FST; PRPF31; RP11; Retinitis pigmentosa; asymptomatic carriers; non-penetrance

Texto completo

Imprimir

XML

PubMed Links

Buscar en Google

Texto completo: 1 Base de datos: MEDLINE Asunto principal: Retinitis Pigmentosa Tipo de estudio: Diagnostic_studies / Observational_studies / Prevalence_studies / Prognostic_studies / Risk_factors_studies Idioma: En Revista: Ophthalmic Genet Asunto de la revista: GENETICA MEDICA / OFTALMOLOGIA Año: 2023 Tipo del documento: Article

Texto completo

Imprimir

XML

PubMed Links

Buscar en Google