Mutations in the molybdenum cofactor biosynthetic genes MOCS1, MOCS2, and GEPH

Human Mutation

Volumn 21, Issue 6, 2003, Pages 569-576

  Reiss, Jochen ^a,c   Johnson, Jean L ^b  

^a UNIVERSITY MEDICAL CENTER GÖTTINGEN   (Germany)

^b DUKE UNIVERSITY MEDICAL CENTER   (United States)

^c UNIVERSITY OF GÖTTINGEN   (Germany)

Author keywords

GEPH; Gephyrin; MOCS1; MOCS2; Molybdenum cofactor deficiency; Sulfite oxidase

Indexed keywords

COMPLEMENTARY DNA; GEPHYRIN; MESSENGER RNA; MOLYBDENUM; SULFITE OXIDASE;

ALLELE; ANIMAL MODEL; BIOSYNTHESIS; ENZYME DEFICIENCY; GENE; GENE DELETION; GENE INSERTION; GENE MUTATION; GEOGRAPHIC DISTRIBUTION; GEPH GENE; HUMAN; HUMAN GENOME; KNOCKOUT MOUSE; MISSENSE MUTATION; MOCS1 GENE; MOCS2 GENE; MOCS3 GENE; MOLYBDENUM COFACTOR DEFICIENCY; NONHUMAN; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; OPEN READING FRAME; PRIORITY JOURNAL; REVIEW;

ANIMALS; CARRIER PROTEINS; COENZYMES; HUMANS; MEMBRANE PROTEINS; METALLOPROTEINS; MOLECULAR SEQUENCE DATA; MUTATION; NUCLEAR PROTEINS; PTERIDINES; SULFURTRANSFERASES;

INSERTION SEQUENCES;

EID: 0038579490     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.10223     Document Type: Review

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