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Literature summary for 2.7.1.14 extracted from

  • Wamelink, M.M.; Struys, E.A.; Jansen, E.E.; Blom, H.J.; Vilboux, T.; Gahl, W.A.; Koemhoff, M.; Jakobs, C.; Levtchenko, E.N.
    Elevated concentrations of sedoheptulose in bloodspots of patients with cystinosis caused by the 57-kb deletion: implications for diagnostics and neonatal screening (2011), Mol. Genet. Metab., 102, 339-342.
    View publication on PubMed

Organism

Organism UniProt Comment Textmining
Homo sapiens
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-
-

Synonyms

Synonyms Comment Organism
CARKL
-
Homo sapiens
SHPK
-
Homo sapiens

General Information

General Information Comment Organism
malfunction cystinosis is caused by mutations in CTNS. The most prevalent CTNS mutation is a homozygous 57-kb deletion. This 57-kb deletion encompasses not only the CTNS gene but also the adjacent gene, CARKL. Patients with this deletion have elevated urinary concentrations of sedoheptulose Homo sapiens