Article
Mutations and DNA diagnoses of classical citrullinemia.
Human mutation - 1 Jan 1997
Kakinoki H, Kobayashi K, Terazono H, Nagata Y, Saheki T
Abstract excerpt
Classical citrullinemia is an autosomal recessive disease caused by a genetic deficiency of argininosuccinate synthetase (ASS). We have previously identified 20 mutations in ASS mRNA of human classical citrullinemia and already established the DNA diagnosis of seven mutations as follows. By Southern blot analysis, each of the alleles with exon 5 or 6 deletion in mRNA appears to involve deletion of genomic DNA...
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