Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Eckhart Apfelstedt-Sylla"'
Autor:
Lindsay T. Sharpe, Tim Marx, Bernd Wissinger, Ian Giddings, Eberhart Zrenner, Susanne Kohl, Eckhart Apfelstedt-Sylla, Herbert Jägle, Samuel G. Jacobson
Publikováno v:
Nature genetics. 19(3)
Total colourblindness (OMIM 216900), also referred to as rod monochromacy (RM) or complete achromatopsia, is a rare, autosomal recessive inherited and congenital disorder characterized by photophobia, reduced visual acuity, nystagmus and the complete
Autor:
Bernhard H. F. Weber, Heidi Stöhr, Karen White, Nadine Hemmrich, Hendrik P. N. Scholl, Klaus Steiner, Bernhard Jurklies, T. Grimm, Eckhart Apfelstedt-Sylla, Birgit Lorenz, Andrea Rivera
Publikováno v:
The American Journal of Human Genetics. (4):800-813
Stargardt disease (STGD) is a common autosomal recessive maculopathy of early and young-adult onset and is caused by alterations in the gene encoding the photoreceptor-specific ATP-binding cassette (ABC) transporter (ABCA4). We have studied 144 patie