1995
Mouse silver. mutation is caused by a single base insertion in the putative cytoplasmic domain of Pmel 17
Kwon B, Halaban R, Ponnazhagan S, Kim K, Chintamaneni C, Bennett D, Pickard R. Mouse silver. mutation is caused by a single base insertion in the putative cytoplasmic domain of Pmel 17. Nucleic Acids Research 1995, 23: 154-158. PMID: 7870580, PMCID: PMC306643, DOI: 10.1093/nar/23.1.154.Peer-Reviewed Original ResearchConceptsPmel 17CDNA clonesMelanocyte cDNA libraryPutative cytoplasmic tailPutative cytoplasmic domainAmino acidsMouse chromosome 10Coat color locusSingle nucleotide insertionSilver locusSingle base insertionChromosomal locationGenomic regionsCytoplasmic domainTermination signalCytoplasmic tailCDNA libraryReading frameSI allelesColor locusCarboxyl terminusC-terminusChromosome 10Nucleotide insertionBase insertion
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