XPA

Publications

Fassihi H et al. Deep phenotyping of 89 xeroderma pigmentosum patients reveals unexpected heterogeneity dependent on the precise molecular defect. Proc Natl Acad Sci. 2016:E1236-1245. PMID: 26884178.

Bradford P T et al. Cancer and neurologic degeneration in xeroderma pigmentosum: long term follow-up characterises the role of DNA repair. J Med Genet. 2011;48(3):168-176. PMID: 21097776.

Lehmann A R et al. Xeroderma pigmentosum. Orphanet J Rare Dis. 2011;6:70. PMID22044607.

Nishigori C et al. Characteristics of Xeroderma Pigmentosum in Japan: Lessons From Two Clinical Surveys and Measures for Patient Care. Photochem Photobiol. 2019;95(1):140-153. PMID: 30565713.