• Mutation; HGNC; HGNC:12814; XPA; Simple; p.Cys105Tyr (c.314G>A); ClinVar=VCV002242179; Zygosity=Homozygous (PubMed=26743599; PubMed=26884178).
  

PubMed=26743599; DOI=10.1016/j.jid.2015.12.031
Mieran Sethi, Shaheen Haque, Heather Fawcett, Jonathan F. Wing, Natalie Chandler, Shehla Mohammed, Ian Martin Frayling, Paul G. Norris, David McGibbon, Antony R. Young, Robert Paul Edmond Sarkany ...Show all 13 authors... , Alan R. Lehmann, Hiva Fassihi; Show fewer authors
A distinct genotype of XP complementation group A: surprisingly mild phenotype highly prevalent in Northern India/Pakistan/Afghanistan.
J. Invest. Dermatol. 136:869-872(2016)

PubMed=26884178; DOI=10.1073/pnas.1519444113; PMCID=PMC4780618
Hiva Fassihi, Mieran Sethi, Heather Fawcett, Jonathan F. Wing, Natalie Chandler, Shehla Mohammed, Emma Craythorne, Ana M.S. Morley, Rong-Xuan Lim, Sally Turner, Tanya Henshaw ...Show all 25 authors... , Isabel Garrood, Paola Giunti, Tammy Hedderly, Adesoji Abiona, Harsha Naik, Gemma Harrop, David McGibbon, Nicolaas G.J. Jaspers, Elena Botta, Tiziana Nardo, Miria Stefanini, Antony R. Young, Robert Paul Edmond Sarkany, Alan R. Lehmann; Show fewer authors
Deep phenotyping of 89 xeroderma pigmentosum patients reveals unexpected heterogeneity dependent on the precise molecular defect.
Proc. Natl. Acad. Sci. U.S.A. 113:E1236-E1245(2016)