Genes, RecessiveGene Expression ProfilingConsanguinityMutationPedigreePhenotypeOligonucleotide Array Sequence AnalysisGenetic TechniquesMolecular Sequence DataRNA InterferenceIntegrasesBase SequenceGenetic VectorsGene TargetingGenomicsGene ExpressionGene Expression RegulationHomozygoteTransgenesModels, GeneticReverse Transcriptase Polymerase Chain ReactionGreen Fluorescent ProteinsRecombination, GeneticRNA, Small InterferingPolymerase Chain ReactionRNA, MessengerGene SilencingPlasmidsPolycystic Kidney, Autosomal RecessivePromoter Regions, GeneticComputational BiologyGenetic LinkageChromosome MappingGene Expression Regulation, DevelopmentalGene Transfer TechniquesDatabases, GeneticGenes, DominantDNA Mutational AnalysisSyndromeDNAHeterozygoteRNATranscription, GeneticMice, TransgenicAllelesCell LineRetinitis PigmentosaMutation, MissenseLod ScoreGenes, LethalIchthyosisAbnormalities, MultipleAlgorithmsGenotypeCrosses, GeneticCodon, NonsenseMicrocephalyEpidermolysis Bullosa DystrophicaHaplotypesExonsDeafnessHypotrichosisFrameshift MutationGenetic MarkersAmino Acid SequenceIntellectual DisabilityHeterozygote DetectionGenetic HeterogeneityIchthyosiform Erythroderma, CongenitalExomeFounder EffectFamily HealthPakistanGenetic Predisposition to DiseaseGenetic Complementation TestHearing Loss, SensorineuralX ChromosomeMicrosatellite RepeatsOsteochondrodysplasiasCerebellar AtaxiaIchthyosis, LamellarPoint MutationDwarfismGenetic 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 Strains