Familial moderate hypercholesterolemia caused by Asp235→Glu mutation of the LDL receptor gene and co-occurrence of a de novo deletion of the LDL receptor gene in the same family

Arteriosclerosis, Thrombosis, and Vascular Biology

Volumn 17, Issue 7, 1997, Pages 1392-1399

  Koivisto, Ulla Maija ^a   Gylling, Helena ^a   Miettinen, Tatu A ^a   Kontula, Kimmo ^a,b  

^a UNIVERSITY OF OULU   (Finland)

^b UNIVERSITY OF HELSINKI   (Finland)

Author keywords

Familial hypercholesterolemia; LDL receptor gene mutation

Indexed keywords

LOW DENSITY LIPOPROTEIN; LOW DENSITY LIPOPROTEIN CHOLESTEROL; LOW DENSITY LIPOPROTEIN RECEPTOR;

ADULT; AMINO ACID SUBSTITUTION; ANGIOCARDIOGRAPHY; ARTICLE; CHOLESTEROL BLOOD LEVEL; CLINICAL ARTICLE; CORONARY ARTERY DISEASE; FAMILIAL HYPERCHOLESTEROLEMIA; FEMALE; GENE DELETION; GENE MUTATION; HUMAN; LIPOPROTEIN BLOOD LEVEL; MALE; POINT MUTATION; PRIORITY JOURNAL; XANTHOMA;

EID: 0030754197     PISSN: 10795642     EISSN: None     Source Type: Journal    
DOI: 10.1161/01.ATV.17.7.1392     Document Type: Article

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