Identification of new mutations in the adenylosuccinate lyase gene associated with impaired enzyme activity in lymphocytes and red blood cells

Biochimica et Biophysica Acta - Molecular Basis of Disease

Volumn 1406, Issue 1, 1998, Pages 81-84

  Verginelli, Daniela ^a,b   Luckow, Bruno ^b   Crifò, Carlo ^a   Salerno, Costantino ^a   Gross, Manfred ^b  

^a SAPIENZA UNIVERSITY OF ROME   (Italy)

^b UNIVERSITY OF MUNICH   (Germany)

Author keywords

Adenylosuccinate lyase; Psychomotor retardation; Purine metabolism

Indexed keywords

ADENYLOSUCCINATE LYASE;

ADOLESCENT; ALLELE; ARTICLE; CASE REPORT; DNA SEQUENCE; ENZYME ACTIVITY; ERYTHROCYTE; FEMALE; HUMAN; LYMPHOCYTE; MISSENSE MUTATION; PRIORITY JOURNAL; PSYCHOMOTOR RETARDATION; PURINE METABOLISM;

ADENYLOSUCCINATE LYASE; ADULT; CHILD; ENZYME ACTIVATION; ERYTHROCYTES; FEMALE; HUMANS; LYMPHOCYTES; MALE; MIDDLE AGED; MUTATION; PSYCHOMOTOR DISORDERS;

EID: 0032570893     PISSN: 09254439     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0925-4439(97)00086-0     Document Type: Article

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