Molecular analysis of genomic DNA allows rapid, and accurate, prenatal diagnosis of peroxisomal D-bifunctional protein deficiency

Prenatal Diagnosis

Volumn 22, Issue 1, 2002, Pages 38-41

  Paton, B C ^a   Solly, P B ^a   Nelson, P V ^a   Pollard, A N ^a   Sharp, P C ^a   Fietz, M J ^a  

^a WOMEN S AND CHILDREN S HOSPITAL   (Australia)

Author keywords

D bifunctional protein deficiency; Peroxisomal oxidation defect; Peroxisomal disorder; Peroxisomes; Prenatal diagnosis

Indexed keywords

D BIFUNCTIONAL PROTEIN; DNA; PROTEIN; UNCLASSIFIED DRUG; VERY LONG CHAIN FATTY ACID;

ARTICLE; CASE REPORT; CONTROLLED STUDY; DNA DETERMINATION; ENZYME SUBSTRATE; FATTY ACID OXIDATION; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC COMPLEMENTATION; HUMAN; HUMAN CELL; NUCLEOTIDE SEQUENCE; PEROXISOME; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; PROTEIN DEFICIENCY; PROTEIN ISOLATION;

17-HYDROXYSTEROID DEHYDROGENASES; 3-HYDROXYACYL COA DEHYDROGENASES; AMNIOTIC FLUID; CELLS, CULTURED; DNA; ENOYL-COA HYDRATASE; FATTY ACIDS; FEMALE; HUMANS; HYDRO-LYASES; MINISATELLITE REPEATS; MULTIENZYME COMPLEXES; PEROXISOMES; POLYMERASE CHAIN REACTION; PREGNANCY; PRENATAL DIAGNOSIS;

EID: 0036168136     PISSN: 01973851     EISSN: None     Source Type: Journal    
DOI: 10.1002/pd.233     Document Type: Article

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