Whole-exome sequencing identifies KIZ as a ciliary gene associated with autosomal-recessive rod-cone dystrophy
about
Disruption of the basal body protein POC1B results in autosomal-recessive cone-rod dystrophyRetinal dystrophies, genomic applications in diagnosis and prospects for therapyWhole exome sequencing reveals GUCY2D as a major gene associated with cone and cone-rod dystrophy in Israel.Targeted next generation sequencing identifies novel mutations in RP1 as a relatively common cause of autosomal recessive rod-cone dystrophyMutations in IFT172 cause isolated retinal degeneration and Bardet-Biedl syndrome.Interactome analysis reveals that FAM161A, deficient in recessive retinitis pigmentosa, is a component of the Golgi-centrosomal network.Whole Exome Sequencing Reveals Mutations in Known Retinal Disease Genes in 33 out of 68 Israeli Families with Inherited Retinopathies.Identification of a Novel Homozygous Nonsense Mutation Confirms the Implication of GNAT1 in Rod-Cone Dystrophy.Loss of function mutations in RP1 are responsible for retinitis pigmentosa in consanguineous familial casesPathogenic mutations in TULP1 responsible for retinitis pigmentosa identified in consanguineous familial cases.Genes and Mutations Causing Autosomal Dominant Retinitis Pigmentosa.Whole Genome Sequencing Revealed Mutations in Two Independent Genes as the Underlying Cause of Retinal Degeneration in an Ashkenazi Jewish Pedigree.Photoreceptor Cilia and Retinal Ciliopathies.Next-generation sequencing confirms the implication of SLC24A1 in autosomal-recessive congenital stationary night blindness.Further Insights into the Ciliary Gene and Protein KIZ and Its Murine Ortholog PLK1S1 Mutated in Rod-Cone Dystrophy.Special Issue Introduction: Inherited Retinal Disease: Novel Candidate Genes, Genotype-Phenotype Correlations, and Inheritance Models.Genetic characterization and disease mechanism of retinitis pigmentosa; current scenario.ARL2BP mutations account for 0.1% of autosomal recessive rod-cone dystrophies with the report of a novel splice variant.
P2860
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P2860
Whole-exome sequencing identifies KIZ as a ciliary gene associated with autosomal-recessive rod-cone dystrophy
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2014 nî lūn-bûn
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2014 թուականի Ապրիլին հրատարակուած գիտական յօդուած
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2014 թվականի ապրիլին հրատարակված գիտական հոդված
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2014年の論文
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2014年論文
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2014年論文
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2014年論文
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2014年論文
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2014年論文
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2014年论文
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name
Whole-exome sequencing identif ...... l-recessive rod-cone dystrophy
@ast
Whole-exome sequencing identif ...... l-recessive rod-cone dystrophy
@en
Whole-exome sequencing identif ...... l-recessive rod-cone dystrophy
@nl
type
label
Whole-exome sequencing identif ...... l-recessive rod-cone dystrophy
@ast
Whole-exome sequencing identif ...... l-recessive rod-cone dystrophy
@en
Whole-exome sequencing identif ...... l-recessive rod-cone dystrophy
@nl
prefLabel
Whole-exome sequencing identif ...... l-recessive rod-cone dystrophy
@ast
Whole-exome sequencing identif ...... l-recessive rod-cone dystrophy
@en
Whole-exome sequencing identif ...... l-recessive rod-cone dystrophy
@nl
P2093
P2860
P50
P3181
P1476
Whole-exome sequencing identif ...... l-recessive rod-cone dystrophy
@en
P2093
Aline Antonio
Angélique Terray
Christel Condroyer
Christelle Michiels
Elise Orhan
Fiona Boyard
Jean-Paul Saraiva
Marie-Elise Lancelot
Marion Neuillé
Mélanie Letexier
P2860
P304
P3181
P356
10.1016/J.AJHG.2014.03.005
P407
P577
2014-04-03T00:00:00Z