Homozygous familial hypercholesterolemia: A novel point mutation (W556R) in a Turkish patient

Hum Mutat. 2000 Oct;16(4):374. doi: 10.1002/1098-1004(200010)16:4<374::AID-HUMU16>3.0.CO;2-1.

Authors

G Gutierrez¹, A Schneider, J Jobs, H Schmidt, A Korte, M P Manns, M Stuhrmann

Affiliation

¹ Department of Gastroenterology and Hepatology, Medical School Hannover, Hannover, Germany.

PMID: 11013454
DOI: 10.1002/1098-1004(200010)16:4<374::AID-HUMU16>3.0.CO;2-1

No abstract available

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Adult
Amino Acid Substitution / genetics*
Arginine / genetics
Child, Preschool
Female
Homozygote*
Humans
Hyperlipoproteinemia Type II / complications
Hyperlipoproteinemia Type II / genetics*
Point Mutation / genetics*
Tryptophan / genetics
Turkey

Substances

Tryptophan
Arginine