A novel MOCS2 mutation reveals coordinated expression of the small and large subunit of molybdopterin synthase

Molecular Genetics and Metabolism

Volumn 89, Issue 3, 2006, Pages 210-213

  Hahnewald, Rita ^a   Leimkühler, Silke ^b   Vilaseca, Antonia ^c   Acquaviva Bourdain, Cecile ^d   Lenz, Ulrike ^a   Reiss, Jochen ^a  

^a UNIVERSITY MEDICAL CENTER GÖTTINGEN   (Germany)

^b UNIVERSITY OF POTSDAM   (Germany)

^c Fundacion Sant Joan de Deu   (Spain)

^d HÔPITAL DEBROUSSE   (France)

Author keywords

MOCS2; Molybdenum cofactor deficiency; Overlapping reading frames

Indexed keywords

ENZYME MOCS2A; ENZYME MOCS2B; MOLYBDENUM; MOLYBDOPTERIN; PROTEIN SUBUNIT; SYNTHETASE; UNCLASSIFIED DRUG;

ARTICLE; CASE REPORT; CLINICAL FEATURE; GENE; GENE AMPLIFICATION; GENE DELETION; GENE MUTATION; GENE SEQUENCE; HUMAN; HUMAN CELL; INBORN ERROR OF METABOLISM; MALE; MOCS2 GENE; MOLYBDENUM COFACTOR DEFICIENCY; NEWBORN; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN STABILITY; PROTEIN SYNTHESIS; START CODON; TRANSCRIPTION INITIATION; WESTERN BLOTTING;

BASE SEQUENCE; DNA MUTATIONAL ANALYSIS; EXONS; FATAL OUTCOME; GENOME, HUMAN; HUMANS; INFANT, NEWBORN; LIVER EXTRACTS; MALE; MOLECULAR SEQUENCE DATA; MUTATION; PROTEIN SUBUNITS; RNA SPLICING; SULFURTRANSFERASES;

EUKARYOTA;

EID: 33748960018     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2006.04.008     Document Type: Article

References (9)

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