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Article

Mutations in argininosuccinate synthetase mRNA of Japanese patients, causing classical citrullinemia.

American journal of human genetics - 1 Dec 1994

Kobayashi K, Shaheen N, Terazono H, Saheki T

Abstract excerpt

Citrullinemia is an autosomal recessive disease caused by a genetic deficiency of argininosuccinate synthetase. In order to characterize mutations in Japanese patients with classical citrullinemia, RNA isolated from 10 unrelated patients was reverse-transcribed, and cDNA amplified by PCR was cloned and sequenced. The 10 mutations identified included 6 missense mutations (A118T, A192V, R272C, G280R, R304W, and...

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Identifiers

PMID: 7977368
PMCID: PMC1918437

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