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A novel Q378X mutation exists in the transmembrane transporter protein ABCC6 and its pseudogene: implications for mutation analysis in pseudoxanthoma elasticum

Membrane TransportProtein X-ray CrystallographyMolecular BiologyMembrane BiologyNovel Q378x MutationMutation AnalysisIntracellular TraffickingProtein TransportMedicineStructural BiologyBiomolecular EngineeringPseudoxanthoma Elasticum