Human molydopterin synthase gene: Genomic structure and mutations in molybdenum cofactor deficiency type B

American Journal of Human Genetics

Volumn 64, Issue 3, 1999, Pages 706-711

  Reiss, J ^a,e   Dorche, C ^b   Stallmeyer, B ^c   Mendel, R R ^c   Cohen, N ^d   Zabot, M T ^b  

^a UNIVERSITY OF GÖTTINGEN   (Germany)

^b HÔPITAL DEBROUSSE   (France)

^c TECHNICAL UNIVERSITY OF BRAUNSCHWEIG   (Germany)

^d TECHNION ISRAEL INSTITUTE OF TECHNOLOGY   (Israel)

^e Institut fur Humangenetik   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

MOLYBDENUM; MOLYBDOPTERIN; SYNTHETASE; METALLOPROTEIN; MOCS1 PROTEIN, HUMAN; MOLYBDENUM COFACTOR; MOLYBDOPTERIN SYNTHASE; NUCLEAR PROTEIN; OLIGONUCLEOTIDE; OXIDOREDUCTASE; PTERIDINE DERIVATIVE; SULFURTRANSFERASE;

ARTICLE; BIOSYNTHESIS; ENZYME ACTIVITY; EXON; FRAMESHIFT MUTATION; GENE MAPPING; GENE MUTATION; GENE SEQUENCE; GENE STRUCTURE; GENETIC COMPLEMENTATION; GENOME; HUMAN; MISSENSE MUTATION; NERVE CELL LESION; NUCLEOTIDE SEQUENCE; OPEN READING FRAME; PHENOTYPE; PLEIOTROPY; PRIORITY JOURNAL; START CODON; BIOLOGICAL MODEL; CELL LINE; COENZYME; FIBROBLAST; GENETICS; GENOTYPE; METABOLIC DISORDER; METABOLISM;

CELL LINE; COENZYMES; EXONS; FIBROBLASTS; GENOTYPE; HUMANS; METABOLIC DISEASES; METALLOPROTEINS; MODELS, GENETIC; NUCLEAR PROTEINS; OLIGONUCLEOTIDES; OXIDOREDUCTASES ACTING ON SULFUR GROUP DONORS; PTERIDINES; SULFURTRANSFERASES;

EID: 0033237812     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/302296     Document Type: Article

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