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Article

Heterogeneity of mutations in argininosuccinate synthetase causing human citrullinemia.

The Journal of biological chemistry - 5 Jul 1990

Kobayashi K, Jackson M J, Tick D B, O'Brien W E, Beaudet A L

Abstract excerpt

Citrullinemia is an autosomal recessive disease caused by deficiency of argininosuccinate synthetase. In order to characterize mutations, RNA was isolated from cultured fibroblasts from 13 unrelated patients with neonatal citrullinemia. Ten mutations were identified by sequencing of amplified cDNA. Seven single base missense mutations were identified: Gly14----Ser, Ser180----Asn, Arg157----His, Arg304----Trp,...

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PMID: 2358466

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