Mutations in the 3β-hydroxysterol Δ24-reductase gene cause desmosterolosis, an autosomal recessive disorder of cholesterol biosynthesis

American Journal of Human Genetics

Volumn 69, Issue 4, 2001, Pages 685-694

  Waterham, Hans R ^a   Koster, Janet ^a   Romeijn, Gerrit Jan ^a   Hennekam, Raoul C M ^a   Vreken, Peter ^a   Andersson, Hans C ^b   FitzPatrick, David R ^c   Kelley, Richard I ^d   Wanders, Ronald J A ^a  

^a UNIVERSITY OF AMSTERDAM   (Netherlands)

^b TULANE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^c WESTERN GENERAL HOSPITAL   (United Kingdom)

^d KENNEDY KRIEGER INSTITUTE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

3BETA HYDROXYSTEROL DELTA 24 REDUCTASE; COMPLEMENTARY DNA; DESMOSTEROL; ENZYME; FLAVINE ADENINE NUCLEOTIDE; GENE PRODUCT; OXIDOREDUCTASE; PROTEIN DHCR24; PROTEIN DIM; PROTEIN DWF1; STEROID REDUCTASE; UNCLASSIFIED DRUG; 3BETA HYDROXYSTEROL DELTA24 REDUCTASE; 3BETA-HYDROXYSTEROL DELTA24-REDUCTASE; CHOLESTEROL; DHCR24 PROTEIN, HUMAN; NERVE PROTEIN; NICOTINAMIDE ADENINE DINUCLEOTIDE PHOSPHATE;

AMINO TERMINAL SEQUENCE; ARABIDOPSIS; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CATALYSIS; CHOLESTEROL SYNTHESIS; DESMOSTEROLOSIS; ENZYME ACTIVITY; EXON; FEMALE; HUMAN; INFANT; INTRON; MALE; MISSENSE MUTATION; MOLECULAR WEIGHT; NUCLEOTIDE SEQUENCE; PATHOGENESIS; PRIORITY JOURNAL; REDUCTION; SACCHAROMYCES CEREVISIAE; SEQUENCE ANALYSIS; STEROID BLOOD LEVEL; AMINO ACID SEQUENCE; ANIMAL; BIOSYNTHESIS; CHEMISTRY; DISORDERS OF LIPID AND LIPOPROTEIN METABOLISM; GENETICS; METABOLISM; MOLECULAR CLONING; MOLECULAR GENETICS; MUTATION; NEWBORN; PHENOTYPE; PLANT; PRESCHOOL CHILD; RECESSIVE GENE; SEQUENCE ALIGNMENT;

AMINO ACID SEQUENCE; ANIMALS; CHILD, PRESCHOOL; CHOLESTEROL; CLONING, MOLECULAR; DESMOSTEROL; DNA MUTATIONAL ANALYSIS; FEMALE; FLAVIN-ADENINE DINUCLEOTIDE; GENES, RECESSIVE; HUMANS; INFANT, NEWBORN; LIPID METABOLISM, INBORN ERRORS; MALE; MOLECULAR SEQUENCE DATA; MUTATION; NADP; NERVE TISSUE PROTEINS; OXIDOREDUCTASES; OXIDOREDUCTASES ACTING ON CH-CH GROUP DONORS; PHENOTYPE; PLANTS; SACCHAROMYCES CEREVISIAE; SEQUENCE ALIGNMENT;

EID: 0034741599     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/323473     Document Type: Article

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