• 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
Arlett C.F., Harcourt S.A., Cole J., Green M.H.L., Anstey A.V.
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
Stefanini M., Vermeulen W., Weeda G., Giliani S., Nardo T., Mezzina M., Sarasin A., Harper J.I., Arlett C.F., Hoeijmakers J.H.J., Lehmann A.R.
A new nucleotide-excision-repair gene associated with the disorder trichothiodystrophy.
Am. J. Hum. Genet. 53:817-821(1993)

PubMed=7671243
Eveno E., Bourre F., Quilliet X., Chevallier-Lagente O., Roza L., Eker A.P.M., Kleijer W.J., Nikaido O., Stefanini M., Hoeijmakers J.H.J., Bootsma D., Cleaver J.E., Sarasin A., Mezzina M.
Different removal of ultraviolet photoproducts in genetically related xeroderma pigmentosum and trichothiodystrophy diseases.
Cancer Res. 55:4325-4332(1995)

PubMed=11416159; DOI=10.1073/pnas.121616198; PMCID=PMC35459
Masters J.R.W., Thomson J.A., Daly-Burns B., Reid Y.A., Dirks W.G., Packer P., Toji L.H., Ohno T., Tanabe H., Arlett C.F., Kelland L.R., Harrison M., Virmani A.K., Ward T.H., Ayres K.L., Debenham P.G.
Short tandem repeat profiling provides an international reference standard for human cell lines.
Proc. Natl. Acad. Sci. U.S.A. 98:8012-8017(2001)

PubMed=15220921; DOI=10.1038/ng1387
Giglia-Mari G., Coin F., Ranish J.A., Hoogstraten D., Theil A.F., Wijgers N., Jaspers N.G.J., Raams A., Argentini M., van der Spek P.J., Botta E., Stefanini M., Egly J.-M., Aebersold R., Hoeijmakers J.H.J., Vermeulen W.
A new, tenth subunit of TFIIH is responsible for the DNA repair syndrome trichothiodystrophy group A.
Nat. Genet. 36:714-719(2004)