Ile225Thr loop mutation in the Lipoprotein Lipase (LPL) gene is a de novo event

American Journal of Medical Genetics

Volumn 78, Issue 4, 1998, Pages 313-316

  Henderson, Howard E ^b,d   Bijvoet, Saskia M ^a   Mannens, Marcel A M M ^a   Bruin, Taco ^a   Erkelens, D Willem ^c   Hayden, Michael R ^b   Kastelein, Johannes J P ^a,e  

^a UNIVERSITY OF AMSTERDAM   (Netherlands)

^b UNIVERSITY OF BRITISH COLUMBIA   (Canada)

^c UTRECHT UNIVERSITY   (Netherlands)

^d UNIVERSITY OF CAPE TOWN   (South Africa)

^e ACADEMIC MEDICAL CENTER   (Netherlands)

Author keywords

De novo mutation; Human; LPL

Indexed keywords

APOLIPOPROTEIN E; CHYLOMICRON; DNA; ISOLEUCINE; LIPOPROTEIN LIPASE; THREONINE; LIPID;

ADULT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; ENZYME ACTIVITY; GENE MUTATION; HETEROZYGOSITY; HUMAN; HYPERLIPOPROTEINEMIA TYPE 1; MALE; PANCREATITIS; PRIORITY JOURNAL; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; AGED; AMINO ACID SUBSTITUTION; BLOOD; DINUCLEOTIDE REPEAT; EXON; GENETICS; GENOTYPE; HAPLOTYPE; MUTATION; PEDIGREE; POLYMERASE CHAIN REACTION;

ADULT; AGED; AMINO ACID SUBSTITUTION; APOLIPOPROTEINS E; DINUCLEOTIDE REPEATS; EXONS; GENOTYPE; HAPLOTYPES; HUMANS; HYPERLIPOPROTEINEMIA TYPE I; ISOLEUCINE; LIPIDS; LIPOPROTEIN LIPASE; MALE; MUTATION; PEDIGREE; POLYMERASE CHAIN REACTION; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; THREONINE;

EID: 0031594839     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: None     Document Type: Article

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