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Genetic heterogeneity of Usher syndrome type II: localisation to chromosome 5q

Usher syndrome is a group of autosomal recessive disorders that includes retinitis pigmentosa (RP) with hearing loss. Usher syndrome type II is defined as moderate to severe hearing loss with RP. The USH2A gene at 1q41 has been isolated and characterised. In 1993, a large Usher II family affected wi...

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Detalhes bibliográficos
Main Authors: Pieke-Dahl, S, Moller, C, Kelley, P, Astuto, L, Cremers, C, Gorin, M, Kimberling, W
Formato: Artigo
Idioma:Inglês
Publicado em: BMJ Group 2000
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1734554/
https://ncbi.nlm.nih.gov/pubmed/10745043
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.37.4.256
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