Clinical and molecular genetic characteristics of patients with cerebrotendinous xanthomatosis

Brain

Volumn 123, Issue 5, 2000, Pages 908-919

  Verrips, Aad ^a   Hoefsloot, Lies H ^a   Steenbergen, Gerry C H ^a   Theelen, Joop P ^a   Wevers, Ron A ^a   Gabreëls, Fons J M ^a   Van Engelen, Baziel G M ^a   Van Den Heuvel, Lambert P W J ^a  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

Cerebrotendinous xanthomatosis; Genotype phenotype correlation; Mutations; Pathogenesis

Indexed keywords

ADRENODOXIN; HEME; MITOCHONDRIAL ENZYME; OXYGENASE;

ADULT; ARTICLE; BINDING SITE; CEREBROTENDINOUS XANTHOMATOSIS; CHILD; CLINICAL GENETICS; ENZYME DEFICIENCY; ETHNIC GROUP; EXON; FAMILY; GENE MUTATION; GENOTYPE; HOMOZYGOSITY; HUMAN; HUMAN CELL; LIPIDOSIS; MAJOR CLINICAL STUDY; MOLECULAR GENETICS; PHENOTYPE; PRIORITY JOURNAL; SCHOOL CHILD;

EID: 0034048587     PISSN: 00068950     EISSN: None     Source Type: Journal    
DOI: 10.1093/brain/123.5.908     Document Type: Article

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