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A nonsense mutation in S-antigen (p.Glu306*) causes Oguchi disease

PURPOSE: Genetic studies were performed to identify the causative mutation in a 15-year-old girl diagnosed with congenital stationary night blindness (CSNB) presenting Mizuo-Nakamura phenomenon, a typical Oguchi disease symptom. The patient also had dural sinus thrombosis (DST), thrombocytopenia, an...

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Detalles Bibliográficos
Autores principales:	Waheed, Nadia K., Qavi, Ahmed H., Malik, Sarah N., Maria, Maleeha, Riaz, Moeen, Cremers, Frans P. M., Azam, Maleeha, Qamar, Raheel
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Molecular Vision 2012
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3365131/ https://www.ncbi.nlm.nih.gov/pubmed/22665972

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