The human glutaryl-CoA dehydrogenase gene: report of intronic sequences and of 13 novel mutations causing glutaric aciduria type I.

Détails

ID Serval
serval:BIB_882117A71BB4
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Titre
The human glutaryl-CoA dehydrogenase gene: report of intronic sequences and of 13 novel mutations causing glutaric aciduria type I.
Périodique
Human Genetics
Auteur(s)
Schwartz M., Christensen E., Superti-Furga A., Brandt N.J.
ISSN
0340-6717 (Print)
ISSN-L
0340-6717
Statut éditorial
Publié
Date de publication
1998
Volume
102
Numéro
4
Pages
452-458
Langue
anglais
Notes
Publication types: Journal Article ; Research Support, Non-U.S. Gov't
Résumé
Glutaric acidemia type I (GAI) (McKusick 231670) is an autosomal recessive disease affecting the catabolism of the amino acids lysine, hydroxylysine and tryptophan, caused by a defect in the gene encoding glutaryl-coenzyme A dehydrogenase (GCDH) and associated with severe neurological symptoms. Several pathogenic mutations in GCDH have been reported to cause GAI. One mutation, R402W, is more common than the others, which seem to be private" mutations. Here we report the entire sequences of introns 1, 2, 3, 6, 7, 8 and 9, and part of those of introns 4, 5 and 10 as well as 21 different mutations in 20 patients with GAI, corresponding to 38 out of 40 alleles.
Mots-clé
Amino Acid Metabolism, Inborn Errors/genetics, Amino Acid Metabolism, Inborn Errors/urine, Amino Acid Sequence, Base Sequence, Cells, Cultured, Fibroblasts, Glutarates/urine, Glutaryl-CoA Dehydrogenase, Humans, Introns, Molecular Sequence Data, Mutation, Oxidoreductases/chemistry, Oxidoreductases/genetics, Oxidoreductases Acting on CH-CH Group Donors, Polymorphism, Single-Stranded Conformational, Sequence Analysis, DNA
Pubmed
Web of science
Création de la notice
14/03/2011 17:14
Dernière modification de la notice
03/03/2018 19:04
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