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C Motti
C Motti
University of Münster
Nonsense mutation
Biology
Internal medicine
Endocrinology
Phosphatidylcholine—sterol O-acyltransferase
2
Papers
140
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A nonsense mutation in the apolipoprotein A-I gene is associated with high-density lipoprotein deficiency and periorbital xanthelasmas.
1994
Arteriosclerosis, Thrombosis, and Vascular Biology
R Römling
A. von Eckardstein
Harald Funke
C Motti
G C Fragiacomo
G. Noseda
Gerd Assmann
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Citations (53)
Genetic and phenotypic heterogeneity in familial lecithin: cholesterol acyltransferase (LCAT) deficiency. Six newly identified defective alleles further contribute to the structural heterogeneity in this disease.
1993
Journal of Clinical Investigation
Harald Funke
A. von Eckardstein
P H Pritchard
A E Hornby
H. Wiebusch
C Motti
Michael R. Hayden
Christiane Dachet
B. Jacotot
U. Gerdes
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Citations (87)
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