Mutational Spectrum of the CTNS Gene in Egyptian Patients with Nephropathic Cystinosis

Background: Nephropathic cystinosis is a rare autosomal recessive disorder caused by mutations in the CTNS gene, encoding for cystinosin, a carrier protein transporting cystine out of lysosomes. Its deficiency leads to cystine accumulation and cell damage in multiple organs, especially in the kidney...

Ausführliche Beschreibung

Gespeichert in:
Bibliographische Detailangaben
Hauptverfasser: Soliman, Neveen A., Elmonem, Mohamed A., van den Heuvel, Lambertus, Abdel Hamid, Rehab H., Gamal, Mohamed, Bongaers, Inge, Marie, Sandrine, Levtchenko, Elena
Format: Artigo
Sprache:Inglês
Veröffentlicht: Springer Berlin Heidelberg 2014
Schlagworte:
Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4213330/
https://ncbi.nlm.nih.gov/pubmed/24464559
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2013_288
Tags: Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!

Ähnliche Einträge