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Site specific screening for point mutations in ornithine transcarbamylase deficiency.

Ornithine transcarbamylase (OTC) deficiency is a frequent X linked disorder of the urea cycle which is responsible for lethal neonatal hyperammonaemia in males and for various clinical symptoms in heterozygous females. In order to improve the efficiency of our screening for mutant genotypes, we focu...

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Main Authors: Feldmann, D, Rozet, J M, Pelet, A, Hentzen, D, Briand, P, Hubert, P, Largilliere, C, Rabier, D, Farriaux, J P, Munnich, A
格式: Artigo
語言:Inglês
出版: 1992
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在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC1016021/
https://ncbi.nlm.nih.gov/pubmed/1353535
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