Missense mutation W86R in exon 3 of the lipoprotein lipase gene in a boy with chylomicronemia

Clinica Chimica Acta

Volumn 343, Issue 1-2, 2004, Pages 179-184

  Pašalić, Daria ^a   Jurčić, Zvonko ^b   Stipančić, Gordana ^b   Ferenčak, Goran ^a   Leren, Trond P ^c   Djurovic, Srdjan ^d   Stavljenić Rukavina, Ana ^a  

^a UNIVERSITY OF ZAGREB   (Croatia)

^b SESTRE MILOSRDNICE UNIVERSITY HOSPITAL   (Croatia)

^c OSLO UNIVERSITY HOSPITAL   (Norway)

^d ULLEVÅL UNIVERSITY HOSPITAL   (Norway)

Author keywords

Familial mutation; Hypertriglyceridemia; Lipoprotein lipase; Lipoprotein lipase deficiency; LPL; Polymorphism; Restriction fragment length; RFLP; Single strand conformation; Single strand conformation polymorphism; SSCP

Indexed keywords

LIPOPROTEIN LIPASE;

AMINO ACID SUBSTITUTION; ANAMNESIS; ARTICLE; CASE REPORT; CLINICAL FEATURE; CODON; CROATIA; DNA DETERMINATION; DNA POLYMORPHISM; DNA SEQUENCE; EXON; GENE FREQUENCY; GENE FUNCTION; GENE STRUCTURE; GENOTYPE; HETEROZYGOTE; HOMOZYGOTE; HUMAN; HYPERLIPOPROTEINEMIA TYPE 1; MALE; MISSENSE MUTATION; PRESCHOOL CHILD; PRIORITY JOURNAL; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; SINGLE STRAND CONFORMATION POLYMORPHISM; WILD TYPE;

ADULT; BASE SEQUENCE; CHILD, PRESCHOOL; CHYLOMICRONS; EXONS; FEMALE; HUMANS; HYPERTRIGLYCERIDEMIA; LIPOPROTEIN LIPASE; MALE; MUTATION, MISSENSE; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; TRYPTOPHAN;

EID: 2042439112     PISSN: 00098981     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.cccn.2004.01.029     Document Type: Article

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