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Cystinosis
- Cystinosis is a condition characterized by accumulation of the amino acid cystine (a building block of proteins) ... be affected.There are three distinct types of cystinosis. In order of decreasing severity, they are nephropathic ...
- ... 80 different mutations that are responsible for causing cystinosis have been identified in the CTNS gene. The ... deletion is responsible for approximately 50 percent of cystinosis cases in people of European descent. Other mutations ...
