Genes, RecessiveInjections, IntraocularRetinacis-trans-IsomerasesEye ProteinsRetinal DegenerationVaccinium myrtillusRetinal DiseasesDependovirusRetinal Pigment EpitheliumGenetic TherapyOligonucleotide Array Sequence AnalysisGene Expression ProfilingReverse Transcriptase Polymerase Chain ReactionGene Transfer TechniquesDisease Models, AnimalGenetic VectorsConsanguinityPedigreeGene ExpressionRNA, MessengerGene Expression RegulationMutationHomozygotePhenotypePolycystic Kidney, Autosomal RecessiveGenetic LinkageChromosome MappingGenes, DominantDNA Mutational AnalysisSyndromeHeterozygoteAllelesRetinitis PigmentosaMutation, MissenseLod ScoreMolecular Sequence DataGenes, LethalIchthyosisAbnormalities, MultipleGenotypeCrosses, GeneticCodon, NonsenseBase SequenceMicrocephalyEpidermolysis Bullosa DystrophicaHaplotypesExonsDeafnessHypotrichosisFrameshift MutationGenetic MarkersAmino Acid SequenceIntellectual DisabilityHeterozygote DetectionGenetic HeterogeneityIchthyosiform Erythroderma, CongenitalExomeFounder EffectFamily HealthPakistanGenetic Predisposition to DiseaseGenetic Complementation TestHearing Loss, SensorineuralX ChromosomeMicrosatellite RepeatsOsteochondrodysplasiasCerebellar AtaxiaIchthyosis, LamellarPoint MutationModels, GeneticDwarfismGenetic Diseases, InbornCollagen Type VIIChromosomes, Human, Pair 2Muscular DystrophiesGenetic TestingGene FrequencyPolymorphism, Single NucleotideBone Diseases, DevelopmentalEpidermolysis BullosaPolymorphism, Single-Stranded ConformationalPolymorphism, GeneticEye Diseases, HereditaryInheritance PatternsOsteopetrosisMetabolism, Inborn ErrorsSequence Analysis, DNAMice, Mutant StrainsArabsSuppression, GeneticChromosomes, Human, Pair 1Myotonia CongenitaPolymerase Chain ReactionAge of OnsetCharcot-Marie-Tooth DiseaseSequence DeletionHearing LossEctodermal DysplasiaFriedreich Ataxia