Oxirredutases do Álcool/genética; Retinose Pigmentar/genética; Sequência de Bases; Mapeamento Cromossômico; Análise Mutacional de DNA; Exoma; Feminino; Genes Recessivos; Estudos de Associação Genética; Heterozigoto; Humanos; Masculino; Mutação de Sentido Incorreto; Linhagem; Polimorfismo de Nucleotídeo Único; Retinose Pigmentar/patologia

A; BRLMM; Bayesian robust linear model with Mahalanobis distance classifier; Bp; C; Compound heterozygosity; DNA; ERG; Exome sequencing; FAG; GCOS; GeneChip Operating Software; I; L; LCA; LM-PCR; Leber congenital amaurosis; Logmar; MgCl2; NAD(P); Ng; OCT; P; PCR; PolyPhen2; RDH12; RP; Retinal dystrophy; Retinitis pigmentosa; SIFT; SNP; T; adenine; arRP; autosomal recessive retinitis pigmentosa; base pairs; cytosine; desoxirribonucleic acid; electroretinogram; fluorescein retinal angiography; isoleucine; leucine; ligation mediated-PCR; logarithm of the minimum angle of resolution; magnesium chloride; microliter; nanogram; nicotinamide adenine dinucleotide phosphate; optical coherence tomography; polymerase chain reaction; polymorphism phenotyping 2; proline; retinitis pigmentosa; retinol dehydrogenase 12; single nucleotide polymorphism; sorting intolerant from tolerant; thymine; µl