Molecular epidemiology of familial hypercholesterolaemia

Lancet

Volumn 352, Issue 9141, 1998, Pages 1643-1644

  Defesche, J C ^a   Kastelein, J J P ^a  

^a UNIVERSITY OF AMSTERDAM   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

LOW DENSITY LIPOPROTEIN RECEPTOR;

FAMILIAL HYPERCHOLESTEROLEMIA; GENE MUTATION; GEOGRAPHIC DISTRIBUTION; HUMAN; PRIORITY JOURNAL; RECEPTOR GENE; SHORT SURVEY;

EID: 0032556362     PISSN: 01406736     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0140-6736(05)61443-2     Document Type: Note

References (6)

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2. LDL-receptor mutation catalogue: http://www.ucl.ac.uk/fh (accessed on Nov 17, 1998).
3. MC Vohl S Moorjani M Roy Geographic distribution of French-Canadian low-density lipoprotein receptor gene mutations in the province of Quebec Clin Genet 52 1997 1 6
4. MA Lehrman WJ Schneider MS Brown The Lebanese allele at the low density lipoprotein receptor locus: nonsense mutation produces truncated receptor that is retained in endoplasmic reticulum J Biol Chem 262 1987 401 410
5. K Aalto-Setälä UM Koivisto TA Miettinen Prevalence and geographical distribution of major LDL receptor gene rearrangements in Finland J Intern Med 231 1992 22 34
6. WK Lee L Haddad MJ Macleod Identification of a common low density lipoprotein receptor mutation ( C163Y ) in the west of Scotland J Med Genet 35 1998 573 578