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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 mutatio...

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Source

Identifiers

PMID: 11073722
DOI: 10.1006/mgme.2000.3082

Genes

GCDH

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-11073722-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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