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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Vydáno v:Meta Gene
Hlavní autoři: Chkioua, Latifa, Khedhiri, Souhir, Grissa, Oussama, Aloui, Chaker, Turkia, Hadhami Ben, Ferchichi, Salima, Miled, Abdelhedi, Froissart, Roseline, Acquaviva, Cecile, Laradi, Sandrine
Médium: Artigo
Jazyk:Inglês
Vydáno: Elsevier 2015
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On-line přístup: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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