Cystinosis and two rare mutations in CTNS gene: two case reports
Abstract Background Cystinosis is an autosomal recessive disorder characterized by an accumulation of the amino acid cystine in lysosomes throughout the body. Cystinosis is an inherited disease resulting from the failure of lysosomal cystine transport. The responsible gene, Cystinosin, Lysosomal Cys...
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| Asıl Yazarlar: | , , |
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| Materyal Türü: | Artigo |
| Dil: | Inglês |
| Baskı/Yayın Bilgisi: |
BMC
2022-05-01
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| Seri Bilgileri: | Journal of Medical Case Reports |
| Konular: | |
| Online Erişim: | https://doi.org/10.1186/s13256-022-03379-7 |
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