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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Main Authors: 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: Artigo
Idioma:Inglês
Publicado em: Molecular Vision 2012
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Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3413430/
https://ncbi.nlm.nih.gov/pubmed/22876113
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