Highly variable clinical phenotype of carbamylphosphate synthetase 1 deficiency in one family: an effect of allelic variation in gene expression?

V Klaus, T Vermeulen, B Minassian, N Israelian, K Engel, Allan Meldgaard Lund, K Roebrock, E Christensen, J Häberle

    21 Citations (Scopus)

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    Biochemistry, Genetics and Molecular Biology