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A large deletion in GPR98 causes type IIC Usher syndrome in male and female patients of an Iranian family

BACKGROUND: Usher syndrome (USH) is a clinically and genetically heterogeneous disease. The three recognised clinical phenotypes (types I, II and III; USH1, USH2 and USH3) are caused by mutations in nine different genes. USH2C is characterised by moderate to severe hearing loss, retinitis pigmentosa...

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Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:J Med Genet
Egile Nagusiak: Hilgert, Nele, Kahrizi, Kimia, Najmabadi, Hossein, Dieltjens, Nele, Bazazzadegan, Niloofar, Smith, Richard JH, Van Camp, Guy
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: 2009
Gaiak:
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC4432478/
https://ncbi.nlm.nih.gov/pubmed/19357116
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.2008.060947
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