10571947Talebizadeh Z, Kelley PM, Askew JW, Beisel KW, Smith SDHuman mutationHearing Loss, Sensorineural; Mutation; Potassium Channels; Potassium Channels, Voltage-GatedAmino Acid Sequence; Animals; Base Sequence; Chromosomes, Human, Pair 1; DNA; DNA Mutational Analysis; Female; Genes, Dominant; Genes, Recessive; Genetic Linkage; Genetic Variation; Humans; KCNQ Potassium Channels; Male; Molecular Sequence Data; Pedigree; Point Mutation; Polymorphism, Genetic; Protein Structure, Secondary; Sequence Homology, Amino AcidTalebizadeh Z, Kelley PM, Askew JW, Beisel KW, Smith SD. Novel mutation in the KCNQ4 gene in a large kindred with dominant progressive hearing loss. Hum Mutat. 1999; 14(6):493-501.Hum Mutat1999-01-01T00:00:001999Novel mutation in the KCNQ4 gene in a large kindred with dominant progressive hearing loss.prns:hasAuthorListauthor listprns:hasNetworkhas networkprns:hasPublicationVenuepublished inprns:hasSubjectAreaMajorTopicListhas major subject area listprns:hasSubjectAreaMinorTopicListhas minor subject area listprns:informationResourceReferenceinformation resource referenceprns:maxWeightmaximum weightprns:medlineTAjournal title abbreviationprns:meshDescriptorUIMeSH DescriptorUIprns:meshSemanticGroupNameMeSH semantic group nameprns:minWeightminimum weightprns:numberOfAuthorsnumber of authorsprns:numberOfConnectionsnumber of connectionsprns:numberOfPublicationsnumber of publicationsprns:predicateNodepredicate nodeprns:publicationDatepublication dateprns:uniquenessWeightuniqueness weightprns:yearyearAcademic ArticleArticleDocumentbibo:pmidPubMed IdentifierAuthorshipvivo:hasSubjectAreahas subject areaInformation Resourcevivo:informationResourceInAuthorshipauthorsvivo:linkedInformationResourcelinked information resourcerdf:predicatepredicaterdf:typetyperdfs:labellabelConceptD008040Concepts & IdeasPhysiology5120.992516Genetic LinkageD008297Physiology11633280.54802MaleD008969Concepts & IdeasGenes & Molecular Sequences20670.98589Molecular Sequence DataD009154Physiology481990.908346MutationD010375Concepts & Ideas22560.983861PedigreeD011110Physiology13890.948803Polymorphism, GeneticAuthorship 910.08699470.08699471authors10.2524has subject areaD014644Phenomena251670.890529Genetic VariationD015221Chemicals & Drugs110.999776Potassium ChannelsD017354Physiology440.998573Point MutationD017386Concepts & IdeasGenes & Molecular Sequences450.99958Sequence Homology, Amino AcidD017433Concepts & Ideas110.999942Protein Structure, SecondaryD024642Chemicals & DrugsPotassium Channels, Voltage-GatedD051656Chemicals & DrugsKCNQ Potassium ChannelsD000595Genes & Molecular Sequences16280.993359Amino Acid SequenceD000818Living Beings726640.834746AnimalsD001483Chemicals & DrugsGenes & Molecular Sequences27850.978802Base SequenceD002878Anatomy330.999526Chromosomes, Human, Pair 1D004247Chemicals & Drugs15420.981843DNAD004252Procedures16390.986402DNA Mutational AnalysisD005260Physiology11835990.534568FemaleD005799Genes & Molecular SequencesPhysiology440.997541Genes, DominantD005808Genes & Molecular SequencesPhenomena260.99461Genes, RecessiveD006319Disorders330.997253Hearing Loss, SensorineuralD006801Living Beings12067970.397999Humans