Mutations in the gene encoding peroxisomal α-methylacyl-CoA racemase cause adult-onset sensory motor neuropathy

Nature Genetics

Volumn 24, Issue 2, 2000, Pages 188-191

  Ferdinandusse, Sacha ^a   Denis, Simone ^a   Clayton, Peter T ^b   Graham, Andrew ^c   Rees, John E ^c   Allen, John T ^d   McLean, Brendan N ^e   Brown, Ann Y ^d   Vreken, Peter ^a   Waterham, Hans R ^a   Wanders, Ronald J A ^a  

^a UNIVERSITY OF AMSTERDAM   (Netherlands)

^b UNIVERSITY COLLEGE LONDON   (United Kingdom)

^c PRINCESS ROYAL HOSPITAL   (United Kingdom)

^d SOUTHMEAD HOSPITAL   (United Kingdom)

^e ROYAL CORNWALL HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ACYL COENZYME A; FATTY ACID; RACEMASE;

ADRENOLEUKODYSTROPHY; ARTICLE; CASE REPORT; CONTROLLED STUDY; DISEASE ASSOCIATION; ENZYME ACTIVITY; GENE MUTATION; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; NUCLEOTIDE SEQUENCE; PATHOGENESIS; PRIORITY JOURNAL; SENSORIMOTOR NEUROPATHY; STEREOISOMERISM;

ADULT; AGE OF ONSET; AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; ANIMALS; CLONING, MOLECULAR; ESCHERICHIA COLI; FEMALE; HEREDITARY MOTOR AND SENSORY NEUROPATHIES; HUMANS; INFANT; MALE; MICE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; PEROXISOMES; POINT MUTATION; RACEMASES AND EPIMERASES; RATS; RECOMBINANT PROTEINS; SEQUENCE ALIGNMENT; SEQUENCE HOMOLOGY, AMINO ACID;

ESCHERICHIA COLI;

EID: 0033973970     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/72861     Document Type: Article

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