Next-generation sequencing-based molecular diagnosis of 35 Hispanic retinitis pigmentosa probands
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A Novel Dominant Mutation in SAG, the Arrestin-1 Gene, Is a Common Cause of Retinitis Pigmentosa in Hispanic Families in the Southwestern United States.Identification of a novel RPGRIP1 mutation in an Iranian family with leber congenital amaurosis by exome sequencing.Genetic identification and molecular modeling characterization reveal a novel PROM1 mutation in Stargardt4-like macular dystrophy.A new approach based on targeted pooled DNA sequencing identifies novel mutations in patients with Inherited Retinal Dystrophies
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Next-generation sequencing-based molecular diagnosis of 35 Hispanic retinitis pigmentosa probands
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article científic
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article scientifique
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articolo scientifico
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artigo científico
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bilimsel makale
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scientific article published on 06 September 2016
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vedecký článok
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vetenskaplig artikel
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videnskabelig artikel
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vědecký článek
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name
Next-generation sequencing-bas ...... retinitis pigmentosa probands
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Next-generation sequencing-bas ...... retinitis pigmentosa probands.
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type
label
Next-generation sequencing-bas ...... retinitis pigmentosa probands
@en
Next-generation sequencing-bas ...... retinitis pigmentosa probands.
@nl
prefLabel
Next-generation sequencing-bas ...... retinitis pigmentosa probands
@en
Next-generation sequencing-bas ...... retinitis pigmentosa probands.
@nl
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Next-generation sequencing-bas ...... retinitis pigmentosa probands
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P2093
Byron L Lam
Jennifer D Verriotto
Mingchu Xu
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P2888
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10.1038/SREP32792
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P50
P577
2016-09-06T00:00:00Z