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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 

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Mutation analysis of the GCDH gene in Italian and Portuguese patients with glutaric aciduria type I.

Two novel (G390V and X439W) and five already known mutations were identified in a total of 14 GA I alleles from Italy and Portugal. The substitution X439W is a rare type of mutation, which breaks the stop codon of the GCDH gene. As described in other populations, R402W was the most common mutation. Genotype R227P/R402W was found in a patient with low glutarate excretion. Haplotype studies have also been performed.[1]

References

  1. Mutation analysis of the GCDH gene in Italian and Portuguese patients with glutaric aciduria type I. Busquets, C., Soriano, M., de Almeida, I.T., Garavaglia, B., Rimoldi, M., Rivera, I., Uziel, G., Cabral, A., Coll, M.J., Ribes, A. Mol. Genet. Metab. (2000) [Pubmed]
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