PMID: 9545543Apr 18, 1998Paper

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

Biochimica Et Biophysica Acta
D VerginelliM Gross

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.

References

Nov 1, 1988·European Journal of Pediatrics·J JaekenM F Vincent
Jan 17, 1996·Biochimica Et Biophysica Acta·S G Sundaram, J A Milner
Jul 1, 1997·Journal of Inherited Metabolic Disease·I SebestaJ Zeman

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Citations

Sep 3, 2009·Acta Crystallographica. Section F, Structural Biology and Crystallization Communications·Guennadi KozlovKalle Gehring
Mar 4, 2000·Prenatal Diagnosis·S MarieG Van den Berghe
Jun 8, 2001·Journal of Child Neurology·F CiardoP Curatolo
Dec 2, 2004·Nucleosides, Nucleotides & Nucleic Acids·C Salerno, C Crifò
Aug 12, 2014·Marine Biotechnology·Ma Jesús Molina-LuzónRoberto de la Herrán

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