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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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Autors principals: Hmani-Aifa, Mounira, Benzina, Zeineb, Zulfiqar, Fareeha, Dhouib, Houria, Shahzadi, Amber, Ghorbel, Abdelmonem, Rebaï, Ahmed, Söderkvist, Peter, Riazuddin, Sheikh, Kimberling, William J, Ayadi, Hammadi
Format: Artigo
Idioma:Inglês
Publicat: Nature Publishing Group 2009
Matèries:
Accés en línia: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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