M. Ebhardt

Delayed low density lipoprotein (LDL) catabolism despite a functional intact LDL-apolipoprotein B particle and LDL-receptor in a subject with clinical homozygous familial hypercholesterolemia.

H. Brewer, R. Shamburek, H. H. Schmidt, 1998, The Journal of clinical endocrinology and metabolism.

Mutation analysis in 46 German families with familial hypercholesterolemia: identification of 8 new mutations. Mutations in brief no. 226. Online.

M. Manns, U. Tietge, H. Schmidt, 1999 .

Mutation analysis in 46 German families with familial hypercholesterolemia: Identification of 8 new mutations

M. Manns, U. Tietge, H. Schmidt, 1999, Human mutation.

Detection of 100% of the CFTR mutations in 63 CF families from Tyrol

T. Dörk, W. Antonin, J. Schmidtke, 1997, Clinical genetics.

LDLR Database (second edition): new additions to the database and the software, and results of the first molecular analysis

Manfred Stuhrmann, Hartmut Schmidt, Christophe Béroud, 1998, Nucleic Acids Res..