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
XPA gene mutations resulting in subtle truncation of protein in xeroderma pigmentosum group A patients with mild skin symptoms.
Takahashi Y et al.
The Journal of Investigative Dermatology, 2010
A summary of mutations in the UV-sensitive disorders: xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy.
Cleaver JE et al.
Human Mutation, 1999
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