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Cystinosis (ctns) zebrafish mutant shows pronephric glomerular and tubular dysfunction
The human ubiquitous protein cystinosin is responsible for transporting the disulphide amino acid cystine from the lysosomal compartment into the cytosol. In humans, Pathogenic mutations of CTNS lead to defective cystinosin function, intralysosomal cystine accumulation and the development of cystino...
Kaydedildi:
Yayımlandı: | Sci Rep |
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Asıl Yazarlar: | , , , , , , , , , , , , , |
Materyal Türü: | Artigo |
Dil: | Inglês |
Baskı/Yayın Bilgisi: |
Nature Publishing Group
2017
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Konular: | |
Online Erişim: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5309805/ https://ncbi.nlm.nih.gov/pubmed/28198397 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/srep42583 |
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