Deep intronic founder mutations identified in the
DNA repair
artificial antisense oligonucleotides (ASOs)
nucleotide excision repair (NER)
oligonucleotide therapeutics
xeroderma pigmentosum
Journal
Proceedings of the National Academy of Sciences of the United States of America
ISSN: 1091-6490
Titre abrégé: Proc Natl Acad Sci U S A
Pays: United States
ID NLM: 7505876
Informations de publication
Date de publication:
04 07 2023
04 07 2023
Historique:
medline:
28
6
2023
pubmed:
26
6
2023
entrez:
26
6
2023
Statut:
ppublish
Résumé
Xeroderma pigmentosum (XP) is a genodermatosis defined by cutaneous photosensitivity with an increased risk of skin tumors because of DNA repair deficiency. The worldwide prevalence of XP is ~1 to 4 in million, with higher incidence in some countries and regions including Japan (1 in 22,000) and North Africa due to founder mutations and a high degree of consanguinity. Among XP, the complementation group F (XP-F), is a rare form (1% of worldwide XP); however, this is underdiagnosed, because the
Identifiants
pubmed: 37364129
doi: 10.1073/pnas.2217423120
pmc: PMC10318981
doi:
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
e2217423120Subventions
Organisme : Arthritis Research UK
ID : FC001043
Pays : United Kingdom
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