A new T677C mutation of the aspartoacylase gene encodes for a protein with no enzymatic activity

Clinical Biochemistry

Volumn 41, Issue 7-8, 2008, Pages 611-615

  Di Pietro, Valentina ^a   Gambacurta, Alessandra ^b   Amorini, Angela Maria ^c   Finocchiaro, Antonino ^a   D'Urso, Serena ^c   Ceccarelli, Lia ^a   Tavazzi, Barbara ^a   Giardina, Bruno ^a   Lazzarino, Giuseppe ^c  

^a CATHOLIC UNIVERSITY   (Italy)

^b UNIVERSITY OF ROME TOR VERGATA   (Italy)

^c UNIVERSITY OF CATANIA   (Italy)

Author keywords

Canavan disease; N acetylaspartate; N acetylaspartoacylase; Site directed mutagenesis; T677C mutation

Indexed keywords

ASPARTOACYLASE; N ACETYLASPARTOACYLASE; UNCLASSIFIED DRUG;

ARTICLE; BACTERIUM COLONY; CANAVAN DISEASE; CASE REPORT; CONTROLLED STUDY; DNA POLYMORPHISM; ENZYME ACTIVITY; ESCHERICHIA COLI; GENE MUTATION; HUMAN; NONHUMAN; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN PURIFICATION; WILD TYPE;

AMIDOHYDROLASES; AMINO ACID SUBSTITUTION; CANAVAN DISEASE; CHILD, PRESCHOOL; CYTOSINE; ENZYME ACTIVATION; FEMALE; HUMANS; MALE; MUTAGENESIS, SITE-DIRECTED; MUTATION; THYMINE;

EID: 41849137195     PISSN: 00099120     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.clinbiochem.2008.01.021     Document Type: Article

References (9)

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