A Q136Stop mutation in the ARH gene causing autosomal recessive hypercholesterolaemia with severely delayed LDL catabolism
J Intern Med
.
2003 May;253(5):582-3.
doi: 10.1046/j.1365-2796.2003.01139.x.
Authors
U J F Tietge
,
J Genschel
,
H H-J Schmidt
PMID:
12702036
DOI:
10.1046/j.1365-2796.2003.01139.x
No abstract available
Publication types
Letter
MeSH terms
Homozygote
Humans
Hypercholesterolemia / genetics
Hypercholesterolemia / metabolism*
Lipoproteins, LDL / metabolism*
Mutation / genetics*
Substances
Lipoproteins, LDL