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Case Report: Identification of a Heterozygous XPA c.553C>T ..:
Juan Antonio García-Carmona
;
Matthew J. Yousefzadeh
;
Fernando Alarcón-Soldevilla
...
https://www.frontiersin.org/articles/10.3389/fgene.2021.717361/full. , 2021
Link:
https://doi.org/10.3389/fgene.2021.717361
RT Journal T1
Case Report: Identification of a Heterozygous XPA c.553C>T Mutation Causing Neurological Impairment in a Case of Xeroderma Pigmentosum Complementation Group A
UL https://suche.suub.uni-bremen.de/peid=base-ftdoajarticles:oai:doaj.org_article:f121378d117e43b6b460fd98cf5559d3&Exemplar=1&LAN=DE A1 Juan Antonio García-Carmona A1 Matthew J. Yousefzadeh A1 Fernando Alarcón-Soldevilla A1 Eva Fages-Caravaca A1 Tra L. Kieu A1 Mariah A. Witt A1 Ángel López-Ávila A1 Laura J. Niedernhofer A1 José Antonio Pérez-Vicente PB Frontiers Media S.A. YR 2021 K1 xeroderma pigmentosum group A K1 neurode generation K1 DNA repair activity K1 nucleotide excision repair K1 mutation K1 rare diseases K1 Genetics K1 QH426-470 JF https://www.frontiersin.org/articles/10.3389/fgene.2021.717361/full LK http://dx.doi.org/https://doi.org/10.3389/fgene.2021.717361 DO https://doi.org/10.3389/fgene.2021.717361 SF ELIB - SuUB Bremen
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