A novel deletion/inversion mutation in the low-density lipoprotein receptor gene as a cause of heterozygous familial hypercholesterolemia

Human Mutation

Volumn 8, Issue 4, 1996, Pages 326-332

  Koivisto, Ulla Maija ^a   Kontula, Kimmo ^b  

^a UNIVERSITY OF HELSINKI   (Finland)

^b UNIVERSITY OF HELSINKI   (Finland)

Author keywords

Deletion insertion; Familial hypercholesterolemia; Inversion; LDL receptor

Indexed keywords

LOW DENSITY LIPOPROTEIN RECEPTOR;

AMINO ACID SEQUENCE; ARTICLE; DNA DETERMINATION; FAMILIAL HYPERLIPEMIA; GENE DELETION; GENE MUTATION; GENE REARRANGEMENT; GENE SEQUENCE; HUMAN; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; RECEPTOR GENE; RNA ANALYSIS; SEQUENCE ANALYSIS;

AGED; ALLELES; AMINO ACID SEQUENCE; BASE SEQUENCE; CELLS, CULTURED; DNA; EXONS; FEMALE; FINLAND; HETEROZYGOTE DETECTION; HUMANS; HYPERLIPOPROTEINEMIA TYPE II; INVERSION, CHROMOSOME; MOLECULAR SEQUENCE DATA; POLYMERASE CHAIN REACTION; RECEPTORS, LDL; SEQUENCE DELETION;

EID: 0029842024     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(1996)8:4<326::AID-HUMU5>3.0.CO;2-5     Document Type: Article

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