A Homozygous Nonsense Variant in < em > UVSSA < /em > Causes UV-sensitive Syndrome from Very Large Kindred: The First Report from Iran

CONCLUSIONS: Here, we report the first genetic diagnosis of UVSS-A in Iran via the successful application of Next-generation sequencing, which expands our understanding of the molecular pathogenesis of this condition.PMID:38192884 | PMC:PMC10772785 | DOI:10.4103/abr.abr_45_22

Source: Biomed Res - January 9, 2024 Category: Research Authors: Azam Ahmadi Shadmehri Fahimeh Akbarian Azadeh Rahimi Mohammad Reza Pourreza Mohammad Amin Tabatabaiefar Source Type: research