Mutation analysis of the GCDH gene in Italian and Portuguese patients with glutaric aciduria type I
- Busquets, C
- Soriano, M
- de Almeida, IT
- Garavaglia, B
- Rimoldi, M
- Rivera, I
- Uziel, G
- Cabral, A
- Coll, MJ
- Ribes, A
Publication date
January 2000
DOI Publisher
ACADEMIC PRESS INC ISSN
1096-7192 Journal
Molecular Genetics and Metabolism Citation count (estimate)
14Abstract
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 pop
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