Article
Mutation analysis of Korean patients with citrullinemia.
Molecules and cells - 31 Aug 2000
Hong K M, Shin C H, Choi Y B, Song W K, Lee S D, Rhee K I, Jang P, Pak G S, Kim J K, Paik M K, Hahn S H
Abstract excerpt
Citrullinemia is an autosomal recessive disease due to the mutations in the argininosuccinate synthetase (ASS) gene. Mutation analysis was performed on three Korean patients with citrullinemia. All of the three patients had the splicing mutation previously reported as IVS6-2A>G mutation. Two had Gly324Ser mutation and the other patient had a 67-bp insertion mutation in exon 15. The IVS6-2A>G mutation was reported...
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