A Common Ancestral Origin of the Frequent and Widespread 2299delG USH2A Mutation

Usher syndrome type IIa is an autosomal recessive disorder characterized by mild-to-severe hearing loss and progressive visual loss due to retinitis pigmentosa. The mutation that most commonly causes Usher syndrome type IIa is a 1-bp deletion, described as “2299delG,” in the USH2A gene. The mutation...

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Main Authors: Dreyer, Bo, Tranebjærg, Lisbeth, Brox, Vigdis, Rosenberg, Thomas, Möller, Claes, Beneyto, Magdalena, Weston, Michael D., Kimberling, William J., Nilssen, Øivind
Formato: Artigo
Idioma:Inglês
Publicado em: The American Society of Human Genetics 2001
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1226039/
https://ncbi.nlm.nih.gov/pubmed/11402400
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