The human glutaryl-CoA dehydrogenase gene: Report of intronic sequeuces and of 13 novel mutations causing glutaric aciduria type I

Human Genetics

Volumn 102, Issue 4, 1998, Pages 452-458

  Schwartz, Marianne ^a   Christensen, Ernst ^a   Superti Furga, Andrea ^b   Brandt, Niels Jacob ^a  

^a Rigshospitalet   (Denmark)

^b UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID; GLUTARIC ACID; GLUTARYL COENZYME A DEHYDROGENASE; HYDROXYLYSINE; LYSINE; TRYPTOPHAN;

ACIDURIA; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CATABOLISM; CLINICAL ARTICLE; GENE MUTATION; GENE SEQUENCE; HUMAN; INTRON; NEUROLOGIC DISEASE; PRIORITY JOURNAL;

AMINO ACID METABOLISM, INBORN ERRORS; AMINO ACID SEQUENCE; BASE SEQUENCE; CELLS, CULTURED; FIBROBLASTS; GLUTARATES; GLUTARYL-COA DEHYDROGENASE; HUMANS; INTRONS; MOLECULAR SEQUENCE DATA; MUTATION; OXIDOREDUCTASES; OXIDOREDUCTASES ACTING ON CH-CH GROUP DONORS; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; SEQUENCE ANALYSIS, DNA;

EID: 0031946633     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004390050720     Document Type: Article

References (16)

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