9768672Carvalho GA, Weiss RE, Refetoff SThe Journal of clinical endocrinology and metabolismMutation; Protein Biosynthesis; Thyroxine-Binding ProteinsAmino Acid Sequence; Base Sequence; DNA Transposable Elements; DNA, Complementary; DNA, Recombinant; Female; Frameshift Mutation; Humans; Male; Middle Aged; Pedigree; Thyroid Function TestsComplete thyroxine-binding globulin (TBG) deficiency produced by a mutation in acceptor splice site causing frameshift and early termination of translation (TBG-Kankakee). J Clin Endocrinol Metab. 1998 Oct; 83(10):3604-8.J Clin Endocrinol Metab1998-10-01T00:00:001998Complete thyroxine-binding globulin (TBG) deficiency produced by a mutation in acceptor splice site causing frameshift and early termination of translation (TBG-Kankakee).prns:fullNamefull nameprns:hasAuthorListauthor listprns:hasNetworkhas networkprns:hasPublicationVenuepublished inprns:hasSubjectAreaMajorTopicListhas major subject area listprns:hasSubjectAreaMinorTopicListhas minor subject area listprns:informationResourceReferenceinformation resource referenceprns:isPrimaryPositionis primary positionprns:latitudelatitudeprns:longitudelongitudeprns:maxWeightmaximum weightprns:medlineTAjournal title abbreviationprns:meshDescriptorUIMeSH DescriptorUIprns:meshSemanticGroupNameMeSH semantic group nameprns:minWeightminimum weightprns:numberOfAuthorsnumber of authorsprns:numberOfConnectionsnumber of connectionsprns:numberOfPublicationsnumber of publicationsprns:personIdPerson IDprns:personInPrimaryPositionperson in primary positionprns:positionInDepartmentposition in departmentprns:predicateNodepredicate nodeprns:publicationDatepublication dateprns:sortOrdersort orderprns:uniquenessWeightuniqueness weightprns:yearyearAcademic ArticleArticleDocumentbibo:pmidPubMed Identifiervivo:authorRankauthor rank in publicationAuthorshipDepartmentvivo:hasSubjectAreahas subject areavivo:hrJobTitleHR job titleInformation Resourcevivo:informationResourceInAuthorshipauthorsvivo:linkedAuthorlinked authorvivo:linkedInformationResourcelinked information resourcePositionvivo:positionInOrganizationposition in organizationvivo:preferredTitlepreferred titlerdf:predicatepredicaterdf:typetyperdfs:labellabelConceptAgentfoaf:firstNamefirst namefoaf:lastNamelast nameOrganizationPersonD000595Genes & Molecular Sequences43920620.7368Amino Acid SequenceD001483Chemicals & DrugsGenes & Molecular Sequences48123290.731399Base SequenceD004251Chemicals & Drugs631690.916508DNA Transposable ElementsD004274Chemicals & DrugsConcepts & IdeasGenes & Molecular SequencesProcedures41670.988268DNA, RecombinantAuthorship 152323Authorship 152332D008875Concepts & IdeasLiving Beings1473249570.258811Middle AgedD009154Physiology70239520.442648MutationD010375Concepts & Ideas1929660.837406PedigreeD005260Physiology1992444050.191167FemaleD013960Procedures141190.965871Thyroid Function TestsD013975Chemicals & Drugs7860.970952Thyroxine-Binding ProteinsD006801Living Beings2262862810.130052HumansD014176Physiology1533780.834494Protein BiosynthesisD008297Physiology1931408600.201617Male0.1708810.04272022authors10.2515has subject areaD018076Chemicals & Drugs1893930.925286DNA, ComplementaryD016368Physiology34510.98278Frameshift MutationMedicineUniversity of ChicagoSamuelRefetoffSamuel Refetoff41.78927490000000-87.60125000000000116Refetoff, SamuelEmeritus/EmeritaRoy EmanuelWeissRoy Emanuel Weiss41.78927490000000-87.601250000000002395Weiss, Roy EmanuelEmeritus/Emerita, Professortrue1Emeritus/Emerita, ProfessorEmeritus/Emerita, Professortrue1Emeritus/EmeritaEmeritus/EmeritaMedicine-Endocrinology