Identification of two new mutations in the GPR98 and the PDE6B genes segregating in a Tunisian family

Autosomal recessive retinitis pigmentosa (ARRP) is a genetically heterogeneous disorder. ARRP could be associated with extraocular manifestations that define specific syndromes such as Usher syndrome (USH) characterized by retinal degeneration and congenital hearing loss (HL). The USH type II (USH2)...

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Detalhes bibliográficos
Main Authors: Hmani-Aifa, Mounira, Benzina, Zeineb, Zulfiqar, Fareeha, Dhouib, Houria, Shahzadi, Amber, Ghorbel, Abdelmonem, Rebaï, Ahmed, Söderkvist, Peter, Riazuddin, Sheikh, Kimberling, William J, Ayadi, Hammadi
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group 2009
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2986209/
https://ncbi.nlm.nih.gov/pubmed/18854872
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2008.167
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