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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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書誌詳細
主要な著者: Hmani-Aifa, Mounira, Benzina, Zeineb, Zulfiqar, Fareeha, Dhouib, Houria, Shahzadi, Amber, Ghorbel, Abdelmonem, Rebaï, Ahmed, Söderkvist, Peter, Riazuddin, Sheikh, Kimberling, William J, Ayadi, Hammadi
フォーマット: Artigo
言語:Inglês
出版事項: Nature Publishing Group 2009
主題:
オンライン・アクセス: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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