CTNS mutations in an American-based population of cystinosis patients.

Nephropathic cystinosis is an autosomal recessive lysosomal storage disease characterized by renal failure at 10 years of age and other systemic complications. The gene for cystinosis, CTNS, has 12 exons. Its 2.6-kb mRNA codes for a 367-amino-acid putative cystine transporter with seven transmembran...

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Autors principals: Shotelersuk, V, Larson, D, Anikster, Y, McDowell, G, Lemons, R, Bernardini, I, Guo, J, Thoene, J, Gahl, W A
Format: Artigo
Idioma:Inglês
Publicat: 1998
Matèries:
Research Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC1377545/
https://ncbi.nlm.nih.gov/pubmed/9792862
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