Mutation analysis of the GCDH gene in Italian and Portuguese patients with glutaric aciduria type I

被引：15

作者：

Busquets, C

Soriano, M

de Almeida, IT

Garavaglia, B

Rimoldi, M

Rivera, I

Uziel, G

Cabral, A

Coll, MJ

Ribes, A

机构：

[1] Corp Sanitaria Clin, Inst Bioquim Clin, E-08028 Barcelona, Spain

[2] Univ Lisbon, Fac Farm, Ctr Patogenese Mol, P-1699 Lisbon, Portugal

[3] Ist Neurol Carlo Besta, Div Biochim & Genet, Milan, Italy

[4] Ist Neurol Carlo Besta, Div Neoropsichiat Infantile, Milan, Italy

[5] Hosp Santa Maria, Unidade Doencas Metab, Lisbon, Portugal

来源：

MOLECULAR GENETICS AND METABOLISM | 2000年 / 71卷 / 03期

关键词：

glutaryl-CoA dehydrogenase; glutaric aciduria type I; RFLP haplotypes; GCDH mutations;

D O I：

10.1006/mgme.2000.3082

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

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.

引用

页码：535 / 537

页数：3

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