1993
Molecular analyses of a tyrosinase-negative albino family.
Park K, Chintamaneni C, Halaban R, Witkop C, Kwon B. Molecular analyses of a tyrosinase-negative albino family. American Journal Of Human Genetics 1993, 52: 406-13. PMID: 8430701, PMCID: PMC1682201.Peer-Reviewed Original ResearchMeSH KeywordsAlbinism, OculocutaneousBase SequenceBlotting, NorthernBlotting, SouthernChildDNA Mutational AnalysisElectrophoresis, Polyacrylamide GelFemaleFrameshift MutationGene LibraryGlycosylationHumansMaleMelanocytesMolecular Sequence DataMonophenol MonooxygenaseMutationPedigreePoint MutationPolymerase Chain ReactionPrecipitin TestsSequence DeletionConceptsAmino acid changesAcid changesPutative amino acid changesPremature termination signalTwo-nucleotide deletionSingle base substitutionTermination signalGel electrophoretic analysisN-glycosylationCDNA libraryBase pair deletionCodon 355Genomic DNAHomologous allelesNucleotide substitutionsSequence analysisMolecular analysisMissense mutationsTwo-base deletionExon 1Electrophoretic analysisCodon 226Exon 3AllelesTyrosinase-negative oculocutaneous albinism
1991
A single base insertion in the putative transmembrane domain of the tyrosinase gene as a cause for tyrosinase-negative oculocutaneous albinism.
Chintamaneni C, Halaban R, Kobayashi Y, Witkop C, Kwon B. A single base insertion in the putative transmembrane domain of the tyrosinase gene as a cause for tyrosinase-negative oculocutaneous albinism. Proceedings Of The National Academy Of Sciences Of The United States Of America 1991, 88: 5272-5276. PMID: 1711223, PMCID: PMC51854, DOI: 10.1073/pnas.88.12.5272.Peer-Reviewed Original Research