Survey of the frequency of USH1 gene mutations in a cohort of Usher patients shows the importance of cadherin 23 and protocadherin 15 genes and establishes a detection rate of above 90%

BACKGROUND: Usher syndrome, a devastating recessive disorder which combines hearing loss with retinitis pigmentosa, is clinically and genetically heterogeneous. Usher syndrome type 1 (USH1) is the most severe form, characterised by profound congenital hearing loss and vestibular dysfunction. OBJECTI...

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Detalhes bibliográficos
Main Authors: Roux, A‐F, Faugère, V, Guédard, S Le, Pallares‐Ruiz, N, Vielle, A, Chambert, S, Marlin, S, Hamel, C, Gilbert, B, Malcolm, S, Claustres, M
Formato: Artigo
Idioma:Inglês
Publicado em: BMJ Group 2006
Assuntos:
Letter to JMG
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2564578/
https://ncbi.nlm.nih.gov/pubmed/16679490
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.2006.041954
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