• Mutation; HGNC; HGNC:12814; XPA; Simple; c.507-1G>T (IVS3-1G>T); Zygosity=Heterozygous; Note=Splice acceptor mutation (Coriell=GM02250).
  
• Mutation; HGNC; HGNC:12814; XPA; Simple; p.Gln185His (c.555G>C); ClinVar=VCV000550646; Zygosity=Heterozygous; Note=Also produces mis-splicing (Coriell=GM02250).
  

PubMed=6809308
Ryoji Ishida, Manuel Buchwald;
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Fujio Otsuka, Robert E. Tarone, Sophie Cayeux, Jay H. Robbins;
Use of lymphoblastoid cell lines to evaluate the hypersensitivity to ultraviolet radiation in Cockayne syndrome.
J. Invest. Dermatol. 82:480-484(1984)

PubMed=2805228; DOI=10.1093/carcin/10.11.2067
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Predominance of Mex+ cells in newly-established human lymphoblastoid cell lines.
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CLPUB00447
Richard A. Mulivor, Sharon F. Suchy;
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(In misc. document) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda; USA (1992)

PubMed=8327515; DOI=10.1073/pnas.90.13.6335; PMCID=PMC46923
Masahiko S. Satoh, Christopher J. Jones, Richard Dean Wood, Tomas Robert Lindahl;
DNA excision-repair defect of xeroderma pigmentosum prevents removal of a class of oxygen free radical-induced base lesions.
Proc. Natl. Acad. Sci. U.S.A. 90:6335-6339(1993)

PubMed=8483505; DOI=10.1038/363185a0
Anne O'Donovan, Richard Dean Wood;
Identical defects in DNA repair in xeroderma pigmentosum group G and rodent ERCC group 5.
Nature 363:185-188(1993)

PubMed=8823375; DOI=10.1111/1523-1747.ep12584287
Shin-ichi Moriwaki, Miria Stefanini, Alan R. Lehmann, Jan Hendrik Jozef Hoeijmakers, Jay H. Robbins, Isabelle Rapin, Elena Botta, Bianca Tanganelli, Wim Vermeulen, Bernard C. Broughton, Kenneth H. Kraemer;
DNA repair and ultraviolet mutagenesis in cells from a new patient with xeroderma pigmentosum group G and Cockayne syndrome resemble xeroderma pigmentosum cells.
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