Juan Antonio García-Carmona Matthew J Yousefzadeh Fernando Alarcón-Soldevilla Eva Fages-Caravaca Tra L Kieu Mariah A Witt Ángel López-Ávila Laura J Niedernhofer José Antonio Pérez-Vicente
10.3389/fgene.2021.717361
Front Genet
2021 Aug 16;12:717361.
dna repair activity mutation neurode generation nucleotide excision repair rare diseases xeroderma pigmentosum group a
CC BY
https://pubmed.ncbi.nlm.nih.gov/34484303/
Case Reports
PMC8415299
34484303
Case Report: Identification of a Heterozygous XPA c.553C>T Mutation Causing Neurological Impairment in a Case of Xeroderma Pigmentosum Complementation Group A
2021