Iminoglycinuria and hyperglycinuria are discrete human phenotypes resulting from complex mutations in proline and glycine transporters

Iminoglycinuria (IG) is an autosomal recessive abnormality of renal transport of glycine and the imino acids proline and hydroxyproline, but the specific genetic defect(s) have not been determined. Similarly, although the related disorder hyperglycinuria (HG) without iminoaciduria has been attribute...

Description complète

Enregistré dans:
Détails bibliographiques
Auteurs principaux: Bröer, Stefan, Bailey, Charles G., Kowalczuk, Sonja, Ng, Cynthia, Vanslambrouck, Jessica M., Rodgers, Helen, Auray-Blais, Christiane, Cavanaugh, Juleen A., Bröer, Angelika, Rasko, John E.J.
Format: Artigo
Langue:Inglês
Publié: American Society for Clinical Investigation 2008
Sujets:
Research Article
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC2579706/
https://ncbi.nlm.nih.gov/pubmed/19033659
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1172/JCI36625
Tags: Ajouter un tag
Pas de tags, Soyez le premier à ajouter un tag!

Documents similaires