Two novel CTNS mutations in cystinosis patients in Thailand.
Bangkok, Thailand. In Gene, 2012
Mutation analysis of CTNS in six cystinosis patients from four families in Thailand. Using PCR sequencing of the entire coding regions, study identified all eight mutant alleles, including two mutations, p.G309D and p.Q284X, that have not been previously reported.
Seattle, United States. In Unknown Journal, 2001
Identification of two pathogenic variants in CTNS, the only gene in which mutation is currently known to be cause cystinosis, is confirmatory.