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...

Ausführliche Beschreibung

Gespeichert in:
Bibliographische Detailangaben
Hauptverfasser: 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
Sprache:Inglês
Veröffentlicht: American Society for Clinical Investigation 2008
Schlagworte:
Research Article
Online Zugang: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: Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!

Ähnliche Einträge