Llwytho...
Infantile Nephropathic Cystinosis: A Novel CTNS Mutation
Cystinosis is a rare autosomal recessive metabolic disorder characterized by the accumulation of cystine in lysosomes, which results from defects in the carrier-mediated transport protein encoded by the CTNS gene. Infantile nephropathic cystinosis (INC) is one of the major complications of cystinosi...
Wedi'i Gadw mewn:
| Cyhoeddwyd yn: | Eurasian J Med |
|---|---|
| Prif Awduron: | , , , , |
| Fformat: | Artigo |
| Iaith: | Inglês |
| Cyhoeddwyd: |
The Eurasian Journal of Medicine
2017
|
| Pynciau: | |
| Mynediad Ar-lein: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5469843/ https://ncbi.nlm.nih.gov/pubmed/28638260 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.5152/eurasianjmed.2017.17039 |
| Tagiau: |
Ychwanegu Tag
Dim Tagiau, Byddwch y cyntaf i dagio'r cofnod hwn!
|