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Four new mutations in the ornithine transcarbamylase geneREISH, O; PLANTE, R. J; TUCHMAN, M et al.Biochemical medicine and metabolic biology. 1993, Vol 50, Num 2, pp 169-175, issn 0885-4505Article

Relative frequency of mutations causing ornithine transcarbamylase deficiency in 78 familiesTUCHMAN, M; PLANTE, R. J; GARCIA-PEREZ, M. A et al.Human genetics. 1996, Vol 97, Num 3, pp 274-276, issn 0340-6717Article

Clinical and biochemical heterogeneity in females of a large pedigree with ornithine transcarbamylase deficiency due to the R141Q MutationAHRENS, M. J; BERRY, S. A; WHITLEY, C. B et al.American journal of medical genetics. 1996, Vol 66, Num 3, pp 311-315, issn 0148-7299Article

The biochemical and molecular spectrum of ornithine transcarbamylase deficiencyTUCHMAN, M; MORIZONO, H; RAJAGOPAL, B. S et al.Journal of inherited metabolic disease. 1998, Vol 21, pp 40-58, issn 0141-8955, SUP1Conference Paper

Identification of 'private' mutations in patients with ornithine transcarbamylase deficiencyTUCHMAN, M; MORIZONO, H; RAJAGOPAL, B. S et al.Journal of inherited metabolic disease. 1997, Vol 20, Num 4, pp 525-527, issn 0141-8955Article

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