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Usher Syndrome Type III: Revised Genomic Structure of the USH3 Gene and Identification of Novel Mutations

Usher syndrome type III is an autosomal recessive disorder characterized by progressive sensorineural hearing loss, vestibular dysfunction, and retinitis pigmentosa. The disease gene was localized to 3q25 and recently was identified by positional cloning. In the present study, we have revised the st...

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Gorde:
Xehetasun bibliografikoak
Egile Nagusiak: Fields, Randall R., Zhou, Guimei, Huang, Dali, Davis, Jack R., Möller, Claes, Jacobson, Samuel G., Kimberling, William J., Sumegi, Janos
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: The American Society of Human Genetics 2002
Gaiak:
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC449697/
https://ncbi.nlm.nih.gov/pubmed/12145752
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