Poulter, James A A missense mutation in ITGB6 causes pitted hypomineralized amelogenesis imperfecta. [electronic resource] - Human molecular genetics Apr 2014 - 2189-97 p. digital Publication Type: Journal Article; Research Support, Non-U.S. Gov't ISSN: 1460-2083 Standard No.: 10.1093/hmg/ddt616 doi Subjects--Topical Terms: Amelogenesis Imperfecta--geneticsAmino Acid SequenceAnimalsDNA--geneticsDental Enamel--metabolismExome--geneticsGenes, RecessiveHumansImmunoenzyme TechniquesIntegrin beta Chains--physiologyMiceMicroscopy, Electron, ScanningMolecular Sequence DataMutation, Missense--geneticsPedigreePhenotypePolymorphism, Single Nucleotide--geneticsReal-Time Polymerase Chain ReactionSequence Homology, Amino AcidX-Ray Microtomography