M. Mangelsdorf

Ancient missense mutations in a new member of the RoRet gene family are likely to cause familial Mediterranean fever (1997)

Aksentijevich, I., Centola, M., Deng, Z. M., Sood, R., Balow, J. E., Wood, G., ...

Familial Mediterranean fever (FMF) is a recessively inherited disorder characterized by dramatic episodes of fever and serosal inflammation. This report describes the cloning of the gene likely to...

Molecular basis of p(CCG)n repeat instability at the FRA16A fragile site locus (1995)

Nancarrow, J.K., Holman, K., Mangelsdorf, M., Hori, T., Denton, M., Sutherland, G.R., ...

Rare, folate-sensitive fragile sites are the result of the unstable expansion of trinucleotide p(CCG)n repeats, which are normally polymorphic in copy number. Differences in the number and frequency...