(Q37622793)

English

Next generation sequencing-based molecular diagnosis of retinitis pigmentosa: identification of a novel genotype-phenotype correlation and clinical refinements

scientific article published on 24 October 2013

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28 February 2020

Next generation sequencing-based molecular diagnosis of retinitis pigmentosa: identification of a novel genotype-phenotype correlation and clinical refinements (English)

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28 February 2020

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genotype-phenotype correlation

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based on heuristic

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retinitis pigmentosa

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based on heuristic

inferred from title

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based on heuristic

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28 February 2020

Comprehensive molecular diagnosis of 179 Leber congenital amaurosis and juvenile retinitis pigmentosa patients by targeted next generation sequencing

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Next-generation sequencing-based molecular diagnosis of a Chinese patient cohort with autosomal recessive retinitis pigmentosa

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Mutations in NMNAT1 cause Leber congenital amaurosis and identify a new disease pathway for retinal degeneration

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Whole-exome sequencing identifies ALMS1, IQCB1, CNGA3, and MYO7A mutations in patients with Leber congenital amaurosis

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A dominant mutation in RPE65 identified by whole-exome sequencing causes retinitis pigmentosa with choroidal involvement

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based on heuristic

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10.1007/S00439-013-1381-5

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28 February 2020

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28 February 2020

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24154662%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

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