Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Andrea Hedergott"'
Autor:
Alexander E, Volk, Andrea, Hedergott, Markus, Preising, Sebastian, Rading, Julia, Fricke, Peter, Herkenrath, Peter, Nürnberg, Janine, Altmüller, Simon, von Ameln, Birgit, Lorenz, Antje, Neugebauer, Meliha, Karsak, Christian, Kubisch
Publikováno v:
Human genetics. 140(8)
Infantile nystagmus syndrome (INS) denominates early-onset, involuntary oscillatory eye movements with different etiologies. Nystagmus is also one of the symptoms in oculocutaneus albinism (OCA), a heterogeneous disease mainly caused by defects in me
Autor:
Christian Kubisch, Andrea Hedergott, Peter Herkenrath, Janine Altmüller, Julia Fricke, Alexander E Volk, Peter Nürnberg, Holger Thiele, Antje Neugebauer
Publikováno v:
Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie. 253(12)
Leber congenital amaurosis (LCA) is a severe retinal dystrophy, typically manifesting in the first year of life. Mutations in more than 18 genes have been reported to date. In recent studies, biallelic mutations in NMNAT1 encoding nicotinamide mononu