Molecular basis of D-bifunctional protein deficiency

Molecular and Cellular Endocrinology

Volumn 171, Issue 1-2, 2001, Pages 61-70

  Moller G ^a   Van Grunsven, E G ^b   Wanders, R J A ^b   Adamski, J ^a  

^a INSTITUTE OF EPIDEMIOLOGY   (Germany)

^b UNIVERSITY OF AMSTERDAM   (Netherlands)

Author keywords

17 HSD4; D Bifunctional protein; Inherited disease; MFP 2; Peroxisomal disorders; Polymorphisms; Oxidation

Indexed keywords

D BIFUNCTIONAL PROTEIN; MULTIFUNCTIONAL PROTEIN 2; PROTEIN; TESTOSTERONE 17BETA DEHYDROGENASE; TESTOSTERONE 17BETA DEHYDROGENASE 4; UNCLASSIFIED DRUG;

BILE ACID SYNTHESIS; CATALASE DEFICIENCY; DISABILITY; DISEASE SEVERITY; DISORDERS OF PEROXISOMAL FUNCTIONS; ENZYME DEFICIENCY; FATTY ACID OXIDATION; FRAMESHIFT MUTATION; GENE DELETION; GENE MUTATION; GENETIC DISORDER; GENETIC POLYMORPHISM; HUMAN; MOLECULAR BIOLOGY; PEROXISOME; PHENOTYPE; POINT MUTATION; PRIORITY JOURNAL; REVIEW; ZELLWEGER SYNDROME;

EID: 0035931309     PISSN: 03037207     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0303-7207(00)00388-9     Document Type: Article

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