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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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| Izdano u: | Meta Gene |
|---|---|
| Glavni autori: | , , , , , , , , , |
| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
Elsevier
2015
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| Teme: | |
| Online pristup: | 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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