USH1G with unique retinal findings caused by a novel truncating mutation identified by genome-wide linkage analysis

PURPOSE: Usher syndrome (USH) is an autosomal recessive disorder divided into three distinct clinical subtypes based on the severity of the hearing loss, manifestation of vestibular dysfunction, and the age of onset of retinitis pigmentosa and visual symptoms. To date, mutations in seven different g...

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Detalles Bibliográficos
Autores principales: Imtiaz, Faiqa, Taibah, Khalid, Bin-Khamis, Ghada, Kennedy, Shelley, Hemidan, Amal, Al-Qahtani, Faisal, Tabbara, Khalid, Mubarak, Bashayer Al, Ramzan, Khushnooda, Meyer, Brian F., Al-Owain, Mohammed
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Molecular Vision 2012
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3413430/
https://www.ncbi.nlm.nih.gov/pubmed/22876113

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