| Literature DB >> 11073722 |
C Busquets1, M Soriano, I T de Almeida, B Garavaglia, M Rimoldi, I Rivera, G Uziel, A Cabral, M J Coll, A Ribes.
Abstract
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. Copyright 2000 Academic Press.Entities:
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Year: 2000 PMID： 11073722 DOI： 10.1006/mgme.2000.3082
Source DB: PubMed Journal: Mol Genet Metab ISSN： 1096-7192 Impact factor: 4.797