A Q136Stop mutation in the ARH gene causing autosomal recessive hypercholesterolaemia with severely delayed LDL catabolism

Journal of Internal Medicine

Volumn 253, Issue 5, 2003, Pages 582-583

  Tietge, U J F ^a   Genschel, J ^a   Schmidt, H H J ^a  

^a HUMBOLDT UNIVERSITY   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

LOW DENSITY LIPOPROTEIN;

AUTOSOMAL RECESSIVE DISORDER; DISEASE SEVERITY; GENE MUTATION; GENE SEQUENCE; HOMEOSTASIS; HOMOZYGOSITY; HUMAN; HYPERCHOLESTEROLEMIA; LETTER; LIPOPROTEIN METABOLISM; PRIORITY JOURNAL; PROMOTER REGION; GENETICS; HOMOZYGOTE; METABOLISM; MUTATION;

HOMOZYGOTE; HUMANS; HYPERCHOLESTEROLEMIA; LIPOPROTEINS, LDL; MUTATION;

EID: 0038748336     PISSN: 09546820     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1365-2796.2003.01139.x     Document Type: Letter

References (5)

1. Goldstein JL, Hobbs HH. Brown MS. Familial hypercholesterolemia. In: Scriver CR. Beaudet AL, Sly WS. Valle D eds The Metabolic and Molecular Basis of Inherited Disease. New York: McGraw-Hill, 2001: 2863-913.
2. Goldstein JL. Brown MS. Molecular medicine: the cholesterol quartet. Science 2001; 292: 1310-2.
3. Garcia CK. Wilund K, Arca M et al. Autosomal recessive hypercholesterolemia caused by mutations in a putative LDL receptor adaptor protein. Science 2001; 292: 1394-8.
4. Schmidt HH-J, Stuhrmann M, Shamburek R et al. 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. J Clin Endocrinol Metab 1998; 83: 2167-74.
5. Arca M, Zuliani G, Wilund K et al. Autosomal recessive hypercholesterolaemia in Sardinia, Italy, and mutations in ARH: a clinical and molecular genetic analysis. Lancet 2002; 359: 841-7.