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The Genomic Region Encompassing the Nephropathic Cystinosis Gene (CTNS): Complete Sequencing of a 200-kb Segment and Discovery of a Novel Gene within the Common Cystinosis-Causing Deletion

Nephropathic cystinosis is an autosomal recessive disorder caused by the defective transport of cystine out of lysosomes. Recently, the causative gene (CTNS) was identified and presumed to encode an integral membrane protein called cystinosin. Many of the disease-associated mutations in CTNS are del...

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Uloženo v:
Vydáno v:Genome Res
Hlavní autoři: Touchman, Jeffrey W., Anikster, Yair, Dietrich, Nicole L., Maduro, Valerie V. Braden, McDowell, Geraldine, Shotelersuk, Vorasuk, Bouffard, Gerard G., Beckstrom-Sternberg, Stephen M., Gahl, William A., Green, Eric D.
Médium: Artigo
Jazyk:Inglês
Vydáno: Cold Spring Harbor Laboratory Press 2000
Témata:
Report
On-line přístup:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC310836/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/10673275/
https://ncbi.nlm.nih.govhttps://doi.org/10.1101/gr.10.2.165
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