Compound heterozygosity for a Wolman mutation is frequent among patients with cholesteryl ester storage disease

Journal of Lipid Research

Volumn 41, Issue 1, 2000, Pages 23-31

  Lohse, Peter ^a   Maas, Sylke ^a   Lohse, Pia ^a   Elleder, Milan ^b   Kirk, Jean M ^c   Besley, Guy T N ^d   Seidel, Dietrich ^a  

^a LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

^b CHARLES UNIVERSITY   (Czech Republic)

^c ROYAL HOSPITAL FOR SICK CHILDREN   (United Kingdom)

^d ROYAL MANCHESTER CHILDREN S HOSPITAL   (United Kingdom)

Author keywords

Enzyme deficiency; Genotype; Lipid metabolism; Lysosomal storage discase; Point mutation

Indexed keywords

ACID LIPASE; APOLIPOPROTEIN A1; APOLIPOPROTEIN B; DNA; HIGH DENSITY LIPOPROTEIN CHOLESTEROL; HYBRID PROTEIN; LOW DENSITY LIPOPROTEIN CHOLESTEROL; RNA; THIOREDOXIN; TRIACYLGLYCEROL; VERY LOW DENSITY LIPOPROTEIN CHOLESTEROL;

ADULT; ARTICLE; CHOLESTEROL ESTER STORAGE DISEASE; CLINICAL ARTICLE; CONTROLLED STUDY; CZECH REPUBLIC; DNA SEQUENCE; ENZYME ACTIVITY; FEMALE; HEPATOSPLENOMEGALY; HETEROZYGOSITY; HUMAN; HUMAN CELL; HYPERLIPOPROTEINEMIA; IRELAND; LIPID METABOLISM; MALE; POINT MUTATION; PRIORITY JOURNAL; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; SCHOOL CHILD; SINGLE STRAND CONFORMATION POLYMORPHISM; WOLMAN DISEASE;

BASE SEQUENCE; CHILD; CHILD, PRESCHOOL; CHOLESTEROL ESTER STORAGE DISEASE; DNA PRIMERS; EXONS; FEMALE; HEPATOMEGALY; HETEROZYGOTE; HUMANS; HYPERLIPOPROTEINEMIAS; MALE; MUTATION; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; RECOMBINANT FUSION PROTEINS; SPLENOMEGALY; WOLMAN DISEASE;

EID: 0033971645     PISSN: 00222275     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (34)

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