Inborn errors of sterol biosynthesis

Annual Review of Genomics and Human Genetics

Volumn 2, Issue , 2001, Pages 299-341

  Kelley, Richard I ^a   Herman, Gail E ^a  

^a KENNEDY KRIEGER INSTITUTE   (United States)

Author keywords

Cholesterol biosynthesis; Chondrodysplasia punctata; Desmosterolosis; Mevalonic aciduria; Smith Lemli Opitz syndrome

Indexed keywords

7 DEHYDROCHOLESTEROL; 7 DEHYDROCHOLESTEROL REDUCTASE; CORTICOSTEROID; EMBRYONIC SIGNALING PROTEIN; MEVALONIC ACID; MEVALONIC KINASE; PROTEIN; SONIC HEDGEHOG PROTEIN; STEROID; STEROL; UNCLASSIFIED DRUG;

ACIDURIA; ANIMAL MODEL; AUTOSOMAL RECESSIVE DISORDER; BEHAVIOR GENETICS; BONE DYSPLASIA; CHOLESTEROL METABOLISM; CHOLESTEROL SYNTHESIS; CHONDRODYSPLASIA PUNCTATA; CLINICAL FEATURE; CONRADI HUNERMANN SYNDROME; DELETION MUTANT; DESMOSTEROLOSIS; DISEASE COURSE; EMBRYO DEVELOPMENT; EMBRYOPATHY; ENZYME ASSAY; ENZYMOLOGY; EXON; FEVER; GENE MUTATION; GENE STRUCTURE; GENOTYPE; GENOTYPE PHENOTYPE CORRELATION; GREENBERG DYSPLASIA; HETEROZYGOSITY; HUMAN; INBORN ERROR OF METABOLISM; INCIDENCE; MEIOSIS; MEVALONIC ACIDURIA; MISSENSE MUTATION; MOLECULAR GENETICS; MULTIPLE MALFORMATION SYNDROME; MUTATIONAL ANALYSIS; NUTRITION; PATHOPHYSIOLOGY; PHENOTYPE; PREGNANCY; REVIEW; SIGNAL TRANSDUCTION; SMITH LEMLI OPITZ SYNDROME; STEROID METABOLISM; STEROL SYNTHESIS; STRUCTURE ACTIVITY RELATION; SYNDROME CHILDS; TRANSCRIPTION REGULATION; X CHROMOSOME LINKAGE;

ANIMALS; CHOLESTEROL; DISEASE MODELS, ANIMAL; EPIDEMIOLOGY, MOLECULAR; GENOTYPE; HUMANS; LIPID METABOLISM, INBORN ERRORS; MALE; PHENOTYPE; PHOSPHOTRANSFERASES (ALCOHOL GROUP ACCEPTOR);

ANIMALIA; ERINACEIDAE; VERTEBRATA;

EID: 0035778887     PISSN: 15278204     EISSN: None     Source Type: Book Series    
DOI: 10.1146/annurev.genom.2.1.299     Document Type: Review

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