Mutation of a nuclear respiratory factor 2 binding site in the 5′ untranslated region of the ADSL gene in three patients with adenylosuccinate lyase deficiency

American Journal of Human Genetics

Volumn 71, Issue 1, 2002, Pages 14-21

  Marie, S ^a   Race, V ^a   Nassogne, M C ^a   Vincent, M F ^a   Van den Berghe, Georges ^a  

^a DE DUVE INSTITUTE   (Belgium)

Author keywords

[No Author keywords available]

Indexed keywords

ADENYLOSUCCINATE LYASE; AMIDE; CYTOSINE; GA BINDING PROTEIN; GENE PRODUCT; NUCLEAR FACTOR; PROTEIN ADSL; PURINE; THYMINE; UNCLASSIFIED DRUG;

ADENYLOSUCCINATE LYASE DEFICIENCY; AMINO ACID SUBSTITUTION; ARTICLE; AUTISM; BINDING SITE; CASE REPORT; CATALYSIS; CLINICAL FEATURE; ENZYME DEFICIENCY; EPILEPSY; GENE EXPRESSION REGULATION; GENE FUNCTION; GENE MUTATION; HUMAN; MENTAL DEFICIENCY; NUCLEOTIDE SEQUENCE; PATHOGENESIS; PRIORITY JOURNAL; PROMOTER REGION; PURINE SYNTHESIS; REDUCTION; RNA TRANSCRIPTION;

EID: 0036306863     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/341036     Document Type: Article

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