Homozygous familial hypercholesterolemia: A novel point mutation (W556R) in a Turkish patient.
Gutierrez
G
G
Department of Gastroenterology and Hepatology, Medical School Hannover, Hannover, Germany.
Schneider
A
A
Jobs
J
J
Schmidt
H
H
Korte
A
A
Manns
M P
MP
Stuhrmann
M
M
D000328:Adult; D019943:Amino Acid Substitution / Q000235:genetics*; D001120:Arginine / Q000235:genetics; D002675:Child, Preschool; D005260:Female; D006720:Homozygote; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000150:complications / Q000235:genetics*; D017354:Point Mutation / Q000235:genetics*; D014364:Tryptophan / Q000235:genetics; D014421:Turkey
D014364:Tryptophan; D001120:Arginine