TY - JOUR
T1 - Mutation analysis of the GCDH gene in Italian and Portuguese patients with glutaric aciduria type 1
AU - Busquets, Christiane
AU - Soriano, Mercedes
AU - De Almeida, Isabel Tavares
AU - Garavaglia, Barbara
AU - Rimoldi, Marco
AU - Rivera, Isabel
AU - Uziel, Graziella
AU - Cabral, Aguinaldo
AU - Coll, M. Josep
AU - Ribes, Antonia
PY - 2000
Y1 - 2000
N2 - 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. (C) 2000 Academic Press.
AB - 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. (C) 2000 Academic Press.
KW - GCDH mutations
KW - Glutaric aciduria type I
KW - Glutaryl-CoA dehydrogenase
KW - RFLP haplotypes
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U2 - 10.1006/mgme.2000.3082
DO - 10.1006/mgme.2000.3082
M3 - Article
C2 - 11073722
AN - SCOPUS:0033731107
VL - 71
SP - 535
EP - 537
JO - Molecular Genetics and Metabolism
JF - Molecular Genetics and Metabolism
SN - 1096-7192
IS - 3
ER -