First Report of <i>CTNS</i> Mutations in a Chinese Family with Infantile Cystinosis

<div>Two splice-site deletions of CTNS identified in this study. (a) IVS6+1, del G. In genome: chr17, del3558396G. (b) IVS8-1, del GT. In genome: chr17 del3559780-81Gt (note: this mutation strikes twice, firstly, it leads to IVS8-1, del G; secondly, it leads to the c.462delT).</div>

The Scientific World Journal

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Figure 2: First Report of <i>CTNS</i> Mutations in a Chinese Family with Infantile Cystinosis 

The Scientific World Journal

First Report of CTNS Mutations in a Chinese Family with Infantile Cystinosis

Figure 2