Identification of new mutations in the adenylosuccinate lyase gene associated with impaired enzyme activity in lymphocytes and red blood cells.
Biochim Biophys Acta
; 1406(1): 81-4, 1998 Feb 27.
Article
em En
| MEDLINE
| ID: mdl-9545543
ABSTRACT
We determined the DNA sequence of the adenylosuccinate lyase (ASL) gene from a 13 year-old female, who showed a reduced ASL enzymatic activity in lymphocytes and red blood cells and suffered from severe psychomotor retardation. The patient was the offspring of a non-consanguineous marriage. She was found to be compound heterozygous for two missense-mutations located on different alleles (C300-G and G1266-T) the first mutation replaces Pro75 by Ala, the second mutation replaces Asp397 by Tyr.
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Base de dados:
MEDLINE
Assunto principal:
Transtornos Psicomotores
/
Linfócitos
/
Adenilossuccinato Liase
/
Eritrócitos
/
Mutação
Tipo de estudo:
Diagnostic_studies
/
Risk_factors_studies
Limite:
Adult
/
Child
/
Female
/
Humans
/
Male
/
Middle aged
Idioma:
En
Ano de publicação:
1998
Tipo de documento:
Article