article_metadata: 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
article_metadata: 10.3389/fgene.2021.717361
article_metadata: Front Genet
article_metadata: 2021 Aug 16;12:717361.
article_metadata: dna repair activity mutation neurode generation nucleotide excision repair rare diseases xeroderma pigmentosum group a
article_metadata: CC BY
article_metadata: https://pubmed.ncbi.nlm.nih.gov/34484303/
article_metadata: Case Reports
article_metadata: PMC8415299
article_metadata: 34484303
article_metadata: Case Report: Identification of a Heterozygous XPA c.553C>T Mutation Causing Neurological Impairment in a Case of Xeroderma Pigmentosum Complementation Group A
article_metadata: 2021