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pro vyhledávání: '"Klaus Niethammer"'
Autor:
Sebastian Fuchs, Ingeborg Krägeloh-Mann, Katja Martina Eckl, Kai Lehmberg, Ansgar Schulz, Julia Bank, Gillian M. Griffiths, Peter Nürnberg, Roswitha Plank, Udo zur Stadt, Klaus Niethammer, Stephan Ehl, Holger Thiele, Hans Christian Hennies, Sandra Ammann, Horst von Bernuth, Nele M. G. Dieckmann, Roland Werner, Janine Altmüller, Samantha Grieve, Anne Strauss
Publikováno v:
Blood
Genetic disorders affecting biogenesis and transport of lysosome-related organelles are heterogeneous diseases frequently associated with albinism. We studied a patient with albinism, neutropenia, immunodeficiency, neurodevelopmental delay, generaliz