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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Pubblicato in:Meta Gene
Autori principali: Chkioua, Latifa, Khedhiri, Souhir, Grissa, Oussama, Aloui, Chaker, Turkia, Hadhami Ben, Ferchichi, Salima, Miled, Abdelhedi, Froissart, Roseline, Acquaviva, Cecile, Laradi, Sandrine
Natura: Artigo
Lingua:Inglês
Pubblicazione: Elsevier 2015
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Article
Accesso online: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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