Ten novel mutations in the molybdenum cofactor genes MOCS1 and MOCS2 and in vitro characterization of a MOCS 2 mutation that abolishes the binding ability of molybdopterin synthase

Human Genetics

Volumn 117, Issue 6, 2005, Pages 565-570

  Leimkühler, Silke ^a   Charcosset, Mathilde ^b   Latour, Philippe ^b   Dorche, Claude ^b   Kleppe, Soledad ^c   Scaglia, Fernando ^c   Szymczak, Irmina ^d   Schupp, Petra ^d   Hahnewald, Rita ^d   Reiss, Jochen ^d  

^a UNIVERSITY OF POTSDAM   (Germany)

^b HÔPITAL DEBROUSSE   (France)

^c BAYLOR COLLEGE OF MEDICINE   (United States)

^d UNIVERSITY OF GÖTTINGEN   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

MOLYBDENUM; MOLYBDOPTERIN; MOLYBDOPTERIN SYNTHASE; SULFITE OXIDASE; SYNTHETASE; UNCLASSIFIED DRUG;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; ENZYME BINDING; ENZYME SUBUNIT; GENE MUTATION; HUMAN; HUMAN GENOME; IN VITRO STUDY; LETHALITY; MOCS1 GENE; MOCS2 GENE; MOCS2A GENE; MOCS2B GENE; MOLYBDENUM COFACTOR DEFICIENCY; NEUROLOGIC DISEASE; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; PROTEIN MOTIF; RNA SPLICING; STOP CODON;

COENZYMES; HUMANS; METALLOPROTEINS; MUTATION; NUCLEAR PROTEINS; PTERIDINES; SULFURTRANSFERASES;

EID: 27544453316     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00439-005-1341-9     Document Type: Article

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