Associated Papers
Predominant neurological phenotype in a Hungarian family with two novel mutations in the XPA gene-case series.
Zádori D et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2020
31478152 (PubMed )
Supplement: 10072_2019_4044_MOESM1_ESM.pdf
Characteristics of Xeroderma Pigmentosum in Japan: Lessons From Two Clinical Surveys and Measures for Patient Care.
Nishigori C et al.
Photochemistry and Photobiology, 2019
An XPA gene splicing mutation resulting in trace protein expression in an elderly patient with xeroderma pigmentosum group A without neurological abnormalities.
Takahashi Y et al.
The British Journal of Dermatology, 2017
Revisiting the structural features of the xeroderma pigmentosum proteins: Focus on mutations and knowledge gaps.
Feltes BC
Mutation Research. Reviews in Mutation Research, 0
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