• Mutation; HGNC; HGNC:21157; GTF2H5; Simple; p.Leu21Pro (c.62T>C); ClinVar=VCV000002104; Zygosity=Heterozygous (PubMed=15220921).
  
• Mutation; HGNC; HGNC:21157; GTF2H5; Simple; p.Arg56Ter (c.166C>T); ClinVar=VCV000002103; Zygosity=Heterozygous (PubMed=15220921).
  

PubMed=1372096; DOI=10.1016/0921-8777(92)90074-d
Colin Francis Arlett, Susan A. Harcourt, Jane Cole, Michael H.L. Green, Alexander Vincent Anstey;
A comparison of the response of unstimulated and stimulated T-lymphocytes and fibroblasts from normal, xeroderma pigmentosum and trichothiodystrophy donors to the lethal action of UV-C.
Mutat. Res. 273:127-135(1992)

PubMed=8213812; PMCID=PMC1682382
Miria Stefanini, Wim Vermeulen, Geert Weeda, Silvia Clara Giliani, Tiziana Nardo, Mauro Mezzina, Alain Sarasin, John I. Harper, Colin Francis Arlett, Jan Hendrik Jozef Hoeijmakers, Alan Robert Lehmann;
A new nucleotide-excision-repair gene associated with the disorder trichothiodystrophy.
Am. J. Hum. Genet. 53:817-821(1993)

PubMed=7671243
Eric Eveno, Francois Bourre, Xavier Quilliet, Odile Chevallier-Lagente, Len Roza, Andre P.M. Eker, Wim J. Kleijer, Osamu Nikaido, Miria Stefanini, Jan Hendrik Jozef Hoeijmakers, Dirk Bootsma ...Show all 14 authors... , James Edward Cleaver, Alain Sarasin, Mauro Mezzina; Show fewer authors
Different removal of ultraviolet photoproducts in genetically related xeroderma pigmentosum and trichothiodystrophy diseases.
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PubMed=11416159; DOI=10.1073/pnas.121616198; PMCID=PMC35459
John R.W. Masters, Jim A. Thomson, Bernadette Daly-Burns, Yvonne A. Reid, Wilhelm Gerhard Dirks, Phil Packer, Lorraine Hellenga Toji, Tadao Ohno, Hideyuki Tanabe, Colin Francis Arlett, Lloyd R. Kelland ...Show all 16 authors... , Maureen Harrison, Arvind K. Virmani, Timothy H. Ward, Karen L. Ayres, Paul G. Debenham; Show fewer authors
Short tandem repeat profiling provides an international reference standard for human cell lines.
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PubMed=15220921; DOI=10.1038/ng1387
Giuseppina Giglia-Mari, Frederic Coin, Jeffrey A. Ranish, Deborah Hoogstraten, Arjan F. Theil, Nils Wijgers, Nicolaas G.J. Jaspers, Anja Raams, Manuela Argentini, Peter J. van der Spek, Elena Botta ...Show all 16 authors... , Miria Stefanini, Jean-Marc Egly, Ruedi Aebersold, Jan Hendrik Jozef Hoeijmakers, Wim Vermeulen; Show fewer authors
A new, tenth subunit of TFIIH is responsible for the DNA repair syndrome trichothiodystrophy group A.
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