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Article

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

Biochimica et biophysica acta - 27 Feb 1998

Verginelli D, Luckow B, Crifò C, Salerno C, Gross M

Abstract excerpt

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...

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Identifiers

PMID: 9545543
DOI: 10.1016/s0925-4439(97)00086-0

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ASL

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