Grüning, G Mutations in the human peripherin/RDS gene associated with autosomal dominant retinitis pigmentosa. [electronic resource] - Human mutation 1994 - 321-3 p. digital Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't ISSN: 1059-7794 Standard No.: 10.1002/humu.1380030326 doi Subjects--Topical Terms: AdultAgedAmino Acid SequenceBase SequenceCodonFemaleGenes, DominantHumansIntermediate Filament Proteins--geneticsMaleMembrane GlycoproteinsMiddle AgedMolecular Sequence DataMutationNerve Tissue ProteinsNeuropeptides--geneticsPedigreePeripherinsPolymerase Chain Reaction--methodsRetinitis Pigmentosa--geneticsRod Cell Outer Segment--metabolismSequence Deletion