An ancestral core haplotype defines the critical region harbouring the North Carolina macular dystrophy gene (MCDR1).

Por Sauer, C G, Schworm, H D, Ulbig, M, Blankenagel, A, Rohrschneider, K, Pauleikhoff, D, Grimm, T, Weber, B H
Publicado em 1997

Features of mtDNA mutation patterns in European pedigrees and sporadic cases with Leber hereditary optic neuropathy.

Por Obermaier-Kusser, B., Lorenz, B., Schubring, S., Paprotta, A., Zerres, K., Meitinger, T., Meire, F., Cochaux, P., Blankenagel, A., Kommerell, G.
Publicado em 1994

The 2588G-->C mutation in the ABCR gene is a mild frequent founder mutation in the Western European population and allows the classification of ABCR mutations in patients with Star...

Por Maugeri, A, van Driel, M A, van de Pol, D J, Klevering, B J, van Haren, F J, Tijmes, N, Bergen, A A, Rohrschneider, K, Blankenagel, A, Pinckers, A J, Dahl, N, Brunner, H G, Deutman, A F, Hoyng, C B, Cremers, F P
Publicado em 1999