Different germline variants in the XPA gene are associated with severe, intermediate, or mild neurodegeneration in xeroderma pigmentosum patients.

Xeroderma pigmentosum (XP) is a rare autosomal recessive disease caused by pathogenic variants in seven nucleotide excision repair genes (XPA to XPG) and POLH involved in translesion synthesis. XP patients have a >1000-fold increased risk for sunlight-induced skin cancers. Many Japanese XP-A patient...

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Bibliografiske detaljer

Principais autores:	Jeffrey P Sagun, Sikandar G Khan, Kyoko Imoto, Deborah Tamura, Kyu-Seon Oh, John J DiGiovanna, Kenneth H Kraemer
Format:	Artigo
Sprog:	Inglês
Udgivet:	Public Library of Science (PLoS) 2024-12-01
Serier:	PLoS Genetics
Online adgang:	https://doi.org/10.1371/journal.pgen.1011265
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