Whole-exome sequencing identifies novel compound heterozygous mutations in USH2A in Spanish patients with autosomal recessive retinitis pigmentosa

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• Mutation Spectrum of EYS in Spanish Patients with Autosomal Recessive Retinitis Pigmentosa
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• Mutations in USH2A in Spanish patients with autosomal recessive retinitis pigmentosa: high prevalence and phenotypic variation
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• Exome sequencing reveals novel and recurrent mutations with clinical significance in inherited retinal dystrophies.
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  Được phát hành: (2014-01-01)