1992
DNA Diagnosis with Mutation-Specific Artificial Methylation Sites: Application to Rapid Screening of Δ F508
Petty E, Gold E, Bale A. DNA Diagnosis with Mutation-Specific Artificial Methylation Sites: Application to Rapid Screening of Δ F508. Clinical Chemistry 1992, 38: 2422-2425. PMID: 1458578, DOI: 10.1093/clinchem/38.12.2422.Peer-Reviewed Original ResearchMeSH KeywordsBase SequenceCystic FibrosisDeoxyribonucleases, Type II Site-SpecificDNAGene DeletionHumansMethylationMolecular Sequence DataPolymerase Chain Reaction
1991
Human CYP1A1 gene: cosegregation of the enzyme inducibility phenotype and an RFLP.
Petersen D, McKinney C, Ikeya K, Smith H, Bale A, McBride O, Nebert D. Human CYP1A1 gene: cosegregation of the enzyme inducibility phenotype and an RFLP. American Journal Of Human Genetics 1991, 48: 720-5. PMID: 1707592, PMCID: PMC1682951.Peer-Reviewed Original ResearchTight linkage of the human c-erbAβ gene with the syndrome of generalized thyroid hormone resistance is present in multiple kindreds
Fein H, Burman K, Djuh Y, Usala S, Bale A, Weintraub B, Smallridge R. Tight linkage of the human c-erbAβ gene with the syndrome of generalized thyroid hormone resistance is present in multiple kindreds. Journal Of Endocrinological Investigation 1991, 14: 219-223. PMID: 1677017, DOI: 10.1007/bf03346792.Peer-Reviewed Original ResearchMeSH KeywordsBase SequenceChromosome MappingDeoxyribonuclease BamHIDeoxyribonucleases, Type II Site-SpecificDrug ResistanceErbB ReceptorsGenetic LinkageHumansMolecular Sequence DataMutationPedigreePolymorphism, Restriction Fragment LengthProto-Oncogene ProteinsReceptors, Thyroid HormoneSyndromeThyroid DiseasesThyroid HormonesThyrotropinThyroxineTriiodothyronineA New Point Mutation in the 3,5,3′-Triiodothyronine-Binding Domain of the c-erbAβ Thyroid Hormone Receptor Is Tightly Linked to Generalized Thyroid Hormone Resistance
Usala S, Menke J, Watson T, Bérard W, Bradley C, Bale A, Lash R, Weintraub B. A New Point Mutation in the 3,5,3′-Triiodothyronine-Binding Domain of the c-erbAβ Thyroid Hormone Receptor Is Tightly Linked to Generalized Thyroid Hormone Resistance. The Journal Of Clinical Endocrinology & Metabolism 1991, 72: 32-38. PMID: 1846005, DOI: 10.1210/jcem-72-1-32.Peer-Reviewed Original ResearchMeSH KeywordsBase SequenceBinding SitesCytosineDeoxyribonucleases, Type II Site-SpecificDrug ResistanceEndocrine System DiseasesFemaleHumansLod ScoreMaleMolecular Sequence DataMutationPedigreePituitary GlandProto-Oncogene ProteinsReceptors, Thyroid HormoneSyndromeThyroid HormonesThyrotropin-Releasing HormoneTriiodothyronine