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Results 1 - 1 of 1 for Cystinosis
  1. CTNS gene 
    ... 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 ...
    https://medlineplus.gov/genetics/gene/ctns - Genetics