16947003Mannavola D, Vannucchi G, Fugazzola L, Cirello V, Campi I, Radetti G, Persani L, Refetoff S, Beck-Peccoz PJournal of molecular medicine (Berlin, Germany)Codon, Nonsense; Frameshift Mutation; Thyroxine-Binding ProteinsAged; Base Sequence; Child; Child, Preschool; DNA Mutational Analysis; Exons; Female; Heterozygote; Homozygote; Humans; Isoelectric Focusing; Male; Middle Aged; Models, Genetic; PedigreeTBG deficiency: description of two novel mutations associated with complete TBG deficiency and review of the literature. J Mol Med (Berl). 2006 Oct; 84(10):864-71.J Mol Med (Berl)2006-09-01T00:00:002006TBG deficiency: description of two novel mutations associated with complete TBG deficiency and review of the literature.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 nameOrganizationPersonD000368Living Beings1341183530.29479AgedD001483Chemicals & DrugsGenes & Molecular Sequences48123290.731431Base SequenceD002648Living Beings93969130.440068ChildD006720Living Beings952000.950718HomozygoteD002675Living Beings65236080.594978Child, PreschoolD004252Procedures2265260.864607DNA Mutational AnalysisD005091Chemicals & Drugs1984500.856712ExonsD007525Procedures17390.995771Isoelectric FocusingD008957Concepts & Ideas2239260.66484Models, GeneticD008875Concepts & IdeasLiving Beings1473249570.258834Middle AgedD010375Concepts & Ideas1929660.83743PedigreeAuthorship 303458D005260Physiology1992444050.191184FemaleD013975Chemicals & Drugs7860.970957Thyroxine-Binding ProteinsD006801Living Beings2262862810.130064HumansD008297Physiology1931408600.201635Male0.07394380.07394381authors10.2518has subject areaD016368Physiology34510.982783Frameshift MutationD018389Chemicals & DrugsPhysiology33410.973558Codon, NonsenseD006579Living Beings1553650.903247HeterozygoteUniversity of ChicagoSamuelRefetoffSamuel Refetoff41.78927490000000-87.60125000000000116Refetoff, SamuelEmeritus/Emeritatrue1Emeritus/EmeritaEmeritus/EmeritaMedicine-Endocrinology