Article
Mutation analysis of the GCDH gene in Italian and Portuguese patients with glutaric aciduria type I.
Molecular genetics and metabolism - 1 Nov 2000
Busquets C, Soriano M, de Almeida I T, Garavaglia B, Rimoldi M, Rivera I, Uziel G, Cabral A, Coll M J, Ribes A
Abstract excerpt
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.
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