Outcome of ABCA4 disease-associated alleles in autosomal recessive retinal dystrophies: retrospective analysis in 420 Spanish families
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Retinal dystrophies, genomic applications in diagnosis and prospects for therapyStargardt disease: clinical features, molecular genetics, animal models and therapeutic optionsIdentification of Genetic Defects in 33 Probands with Stargardt Disease by WES-Based Bioinformatics Gene Panel AnalysisNew mutations in the RAB28 gene in 2 Spanish families with cone-rod dystrophyClinical and molecular characteristics of childhood-onset Stargardt disease.New CDH3 mutation in the first Spanish case of hypotrichosis with juvenile macular dystrophy, a case report.Next-generation sequencing-based comprehensive molecular analysis of 43 Japanese patients with cone and cone-rod dystrophies.Genomic screening of ABCA4 and array CGH analysis underline the genetic variability of Greek patients with inherited retinal diseases.Mutation Spectrum of the ABCA4 Gene in 335 Stargardt Disease Patients From a Multicenter German Cohort-Impact of Selected Deep Intronic Variants and Common SNPs.Applying next generation sequencing with microdroplet PCR to determine the disease-causing mutations in retinal dystrophies.Next-Generation Sequencing-Aided Rapid Molecular Diagnosis of Occult Macular Dystrophy in a Chinese Family.Predictors of visual acuity and genotype-phenotype correlates in a cohort of patients with Stargardt disease.A Report on Molecular Diagnostic Testing for Inherited Retinal Dystrophies by Targeted Genetic Analyses.Identification of a Novel Mutation in the ABCA4 Gene in a Chinese Family with Retinitis Pigmentosa Using Exome Sequencing.Clinical and genetic characteristics of 251 consecutive patients with macular and cone/cone-rod dystrophy.Mutation Spectrum of the ABCA4 Gene in a Greek Cohort with Stargardt Disease: Identification of Novel Mutations and Evidence of Three Prevalent Mutated Alleles.Comparison of Green Versus Blue Fundus Autofluorescence in -Related RetinopathyExpanding the Mutation Spectrum in : Sixty Novel Disease Causing Variants and Their Associated Phenotype in a Large French Stargardt Cohort
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P2860
Outcome of ABCA4 disease-associated alleles in autosomal recessive retinal dystrophies: retrospective analysis in 420 Spanish families
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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 04 June 2013
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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
Outcome of ABCA4 disease-assoc ...... alysis in 420 Spanish families
@en
Outcome of ABCA4 disease-assoc ...... lysis in 420 Spanish families.
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type
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Outcome of ABCA4 disease-assoc ...... alysis in 420 Spanish families
@en
Outcome of ABCA4 disease-assoc ...... lysis in 420 Spanish families.
@nl
prefLabel
Outcome of ABCA4 disease-assoc ...... alysis in 420 Spanish families
@en
Outcome of ABCA4 disease-assoc ...... lysis in 420 Spanish families.
@nl
P2093
P2860
P1433
P1476
Outcome of ABCA4 disease-assoc ...... alysis in 420 Spanish families
@en
P2093
Almudena Avila-Fernandez
Ascension Gimenez
Blanca Garcia-Sandoval
Carmen Ramos
Diego Cantalapiedra
Fiona Blanco-Kelly
Jana Aguirre-Lamban
Jana Zernant
Maria-Isabel Lopez-Molina
Maria-Jose Trujillo-Tiebas
P2860
P304
P356
10.1016/J.OPHTHA.2013.04.002
P577
2013-06-04T00:00:00Z