Genes, RecessiveConsanguinityPedigreeMutationHomozygotePhenotypeMolecular Sequence DataChromosome MappingGenetic LinkagePolycystic Kidney, Autosomal RecessiveDNA Mutational AnalysisBase SequenceGenes, DominantSyndromeAllelesHeterozygoteAmino Acid SequenceMutation, MissenseRetinitis PigmentosaLod ScoreGenotypeGenes, LethalAbnormalities, MultipleCrosses, GeneticIchthyosisHaplotypesExonsCodon, NonsenseMicrocephalyEpidermolysis Bullosa DystrophicaDeafnessGenetic MarkersFrameshift MutationHypotrichosisModels, GeneticSequence Analysis, DNAGenetic HeterogeneityGenetic Complementation TestMicrosatellite RepeatsIntellectual DisabilityHeterozygote DetectionGenetic Predisposition to DiseasePolymerase Chain ReactionFamily HealthFounder EffectPoint MutationX ChromosomeCloning, MolecularIchthyosiform Erythroderma, CongenitalExomeMembrane ProteinsHearing Loss, SensorineuralSequence Homology, Amino AcidPakistanCerebellar AtaxiaPolymorphism, GeneticGenetic Diseases, InbornGene FrequencyRNA, MessengerOsteochondrodysplasiasIchthyosis, LamellarPolymorphism, Single NucleotideGenetic TestingMuscular DystrophiesDwarfismCollagen Type VIIDNAChromosomes, Human, Pair 2Sequence DeletionSequence AlignmentDNA PrimersGenetic VariationCell LinePolymorphism, Single-Stranded ConformationalMice, Mutant StrainsChromosomes, Human, Pair 1Inheritance PatternsSuppression, GeneticBone Diseases, DevelopmentalEye ProteinsEpidermolysis BullosaKineticsEye Diseases, HereditaryAge of OnsetProteinsInfant, NewbornOsteopetrosisMetabolism, Inborn ErrorsArabsPhylogenySaccharomyces cerevisiaeModels, BiologicalFamilyMyotonia CongenitaEthyl MethanesulfonatePigmentationGenes, PlantIntronsElectroretinographyGene Deletion