A 'de novo' point mutation of the low-density lipoprotein receptor gene in an Italian subject with primary hypercholesterolemia

Clinical Genetics

Volumn 53, Issue 5, 1998, Pages 391-395

  Cassanelli, S ^a   Bertolini, S ^b   Rolleri, M ^b   De Stefano, F ^c   Casarino, L ^c   Elicio, N ^b   Naselli, A ^d   Calandra, S ^a  

^a UNIVERSITY OF MODENA AND REGGIO EMILIA   (Italy)

^b Department of Internal Medicine

^c Institute of Forensic Medicine

^d UNIVERSITY OF GENOA   (Italy)

Author keywords

'de novo' mutation; Low density lipoprotein receptor; Primary hypercholesterolemia; Signal peptide

Indexed keywords

COMPLEMENTARY DNA; LOW DENSITY LIPOPROTEIN RECEPTOR;

ADOLESCENT; AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; CONTROLLED STUDY; EXON; FEMALE; HUMAN; HUMAN CELL; HYPERCHOLESTEROLEMIA; MALE; POINT MUTATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROMOTER REGION; RECEPTOR GENE; RESTRICTION SITE; SINGLE STRAND CONFORMATION POLYMORPHISM; SKIN FIBROBLAST; TANDEM REPEAT;

EID: 0031776082     PISSN: 00099163     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1399-0004.1998.tb02752.x     Document Type: Article

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