Genetic basis of cystinosis in Tunisian patients: Identification of novel mutation in CTNS gene

Nephropathic cystinosis (NC) is an autosomal recessive disorder characterized by defective transport of cystine across the lysosomal membrane and resulting in renal, ophthalmic, and other organ abnormalities. Mutations in the CTNS gene cause a deficiency of the transport protein, cystinosin. This st...

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Gepubliceerd in:Meta Gene
Hoofdauteurs: Chkioua, Latifa, Khedhiri, Souhir, Grissa, Oussama, Aloui, Chaker, Turkia, Hadhami Ben, Ferchichi, Salima, Miled, Abdelhedi, Froissart, Roseline, Acquaviva, Cecile, Laradi, Sandrine
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: Elsevier 2015
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Article
Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4528043/
https://ncbi.nlm.nih.gov/pubmed/26266097
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.mgene.2015.07.003
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