Molybdenum cofactor deficiency: First prenatal genetic analysis

Prenatal Diagnosis

Volumn 19, Issue 4, 1999, Pages 386-388

  Reiss, J ^a   Christensen, E ^b   Dorche, C ^c  

^a UNIVERSITY OF GÖTTINGEN   (Germany)

^b Rigshospitalet   (Denmark)

^c HÔPITAL DEBROUSSE   (France)

Author keywords

MOCS1 gene; Molybdenum cofactor; Splice site mutation; Sulphite oxidase

Indexed keywords

ALDEHYDE OXIDASE; MOLYBDENUM COFACTOR; SULFITE OXIDASE; UNCLASSIFIED DRUG; XANTHINE DEHYDROGENASE;

ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CASE REPORT; CELL CULTURE; CHILDHOOD MORTALITY; CHORION VILLUS SAMPLING; CONTROLLED STUDY; ENZYME ACTIVITY; ENZYME DEFICIENCY; FEMALE; GENE MUTATION; GENETIC ANALYSIS; HETEROZYGOTE DETECTION; HUMAN; HUMAN CELL; MOLECULAR CLONING; MOLYBDENUM COFACTOR DEFICIENCY; NEUROLOGIC DISEASE; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; SEIZURE;

EID: 0032934878     PISSN: 01973851     EISSN: None     Source Type: Journal    
DOI: 10.1002/(sici)1097-0223(199904)19:4<386::aid-pd550>3.0.co;2-%23     Document Type: Article

References (9)

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