CTNS Mutations Causing Autosomal Recessive Cystinosis in a Subset of Iranian Population: Report of Two New Variants

CONCLUSION: The mutational spectrum in the Iranian patients is the same as previously reported mutations except that two new mutations were found. The present findings will present suggestions for regular molecular diagnosis of cystinosis in Iran.PMID:38525388 | PMC:PMC10958734 | DOI:10.4103/abr.abr_149_23

Source: Biomed Res - March 25, 2024 Category: Research Authors: Zahra Mohammadi Chermahini Mansoor Salehi Alaleh Gheissari Faeze Ahmadi Beni Farinaz Khosravian Mohammad Kazemi Source Type: research