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

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

Background: Recessive disruptive mutations in nucleotide excision repair genes are responsible for a wide range of cutaneous photosensitivity and, in some cases, are associated with multi-system involvement. The heterogeneous nature of these conditions makes next-generation sequencing the method of...

Full description

Bibliographic Details
Main Authors: Azam Ahmadi Shadmehri, Fahimeh Akbarian, Azadeh Rahimi, Mohammad Reza Pourreza, Mohammad Amin Tabatabaiefar
Format: Article
Language:English
Published: Wolters Kluwer Medknow Publications 2023-01-01
Series:Advanced Biomedical Research
Subjects:
human uvssa protein
iran
nonsense codon
nucleotide excision repair
uv-sensitive syndrome
whole exome sequencing
Online Access:http://www.advbiores.net/article.asp?issn=2277-9175;year=2023;volume=12;issue=1;spage=264;epage=264;aulast=Shadmehri

Internet

http://www.advbiores.net/article.asp?issn=2277-9175;year=2023;volume=12;issue=1;spage=264;epage=264;aulast=Shadmehri

Similar Items