Biallelic mutations in l-dopachrome tautomerase (DCT) cause infantile nystagmus and oculocutaneous albinism
Alexander E. Volk, Andrea Hedergott, Markus N. Preising, Sebastian Rading, Julia Fricke, Peter Herkenrath, Peter Nürnberg, Janine Altmüller, Simon von Ameln, Birgit Lorenz, Antje Neugebauer, Meliha Karsak, Christian Kubisch
Topics & Concepts
Oculocutaneous albinismBiologyAlbinismMissense mutationGeneticsCompound heterozygosityNystagmusMutationExome sequencingMedicineGeneAudiologymelanin and skin pigmentationConnexins and lens biologyBiochemical Analysis and Sensing Techniques