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

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...

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Autors principals: Kobayashi, K., Shaheen, N., Terazono, H., Saheki, T.
Format: Artigo
Idioma:Inglês
Publicat: 1994
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC1918437/
https://ncbi.nlm.nih.gov/pubmed/7977368
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